Aetna · Clinical coverage policy

Aetna Genetic Testing coverage criteria

Aetna CPB 0140 covers germline genetic testing as medically necessary only when the member has clinical features of (or direct inherited risk for) the condition, the result will directly change management, the diagnosis remains uncertain after standard non-genetic workup and genetic counseling, and the specific disease/gene criteria (spanning roughly 60+ named conditions plus whole exome/genome sequencing) are met; multi-gene panels and WES/WGS require that they be more efficient than single-gene testing and, for WES/WGS, geneticist involvement plus pre/post-test counseling. A large catalog of conditions, panels, and brand-name tests is explicitly experimental/investigational, and the bulletin is silent on precertification.

Policy CPB 0140 · Effective · Verify against the current Aetna policy before submitting — view source policy.

Payer

Aetna

Policy

CPB 0140

Prior auth

Confirm

Effective

May 31, 1996

This page reflects the coverage criteria captured from Aetna policy CPB 0140 and may not include every criterion, exception, or code — verify the complete bulletin before submitting.

What this means for the claim

The covered path, the next step to get it approved, and the specific way it denies — built only from this policy.

When does Aetna cover Genetic Testing (CPT 81161), and what gets it denied?

Path
Aetna CPB 0140 covers germline genetic testing as medically necessary only when the member has clinical features of (or direct inherited risk for) the condition, the result will directly change management, the diagnosis remains uncertain after standard non-genetic workup and genetic counseling, and the specific disease/gene criteria (spanning roughly 60+ named conditions plus whole exome/genome sequencing) are met; multi-gene panels and WES/WGS require that they be more efficient than single-gene testing and, for WES/WGS, geneticist involvement plus pre/post-test counseling. A large catalog of conditions, panels, and brand-name tests is explicitly experimental/investigational, and the bulletin is silent on precertification. Coverage criteria include: General requirement (meet ALL): genetic testing is medically necessary only when (a) the member displays clinical features of, OR is at direct risk of inheriting, the mutation in question (pre-symptomatic testing), AND (b) the result will directly impact the treatment/management delivered to the member, AND (c) after history, physical exam, pedigree analysis, genetic counseling, and conventional/non-genetic diagnostic studies the diagnosis remains uncertain, AND (d) the disease-specific medical-necessity criteria below are met.; Multi-gene/disease panels are medically necessary ONLY when the patient has a personal/family history of the related condition, more than one inherited syndrome could explain the presentation, AND the panel is a more efficient strategy than sequential single-gene testing for the differential diagnosis.; Familial colorectal, endometrial, or gastric cancer: germline testing is medically necessary when NCCN testing criteria for the specific syndrome are met (Lynch syndrome [HRS-2], Adenomatous Polyposis [POLYP-1], Juvenile Polyposis [JPS-1], Peutz-Jeghers [PJS1], Hereditary Diffuse Gastric Cancer [HGAST1], Serrated Polyposis [SPS1], Li-Fraumeni and Cowden per NCCN guidelines); considered a once-in-a-lifetime benefit.; Prenatal/preconception carrier screening: medically necessary for pregnant or planning-pregnancy individuals when (ALL) an expanded panel (unless previously performed) includes cystic fibrosis, spinal muscular atrophy, and/or hemoglobinopathies, AND the results will be used in pregnancy/fetal management or family planning. Pan-ethnic carrier panel (>=15 genes) is medically necessary once per lifetime for recessively inherited conditions with carrier frequency >=1/200 (2021 ACMG). Targeted carrier screening is medically necessary for a known familial mutation or specific condition based on family history.; Androgen Insensitivity Syndrome (AR gene sequence analysis): medically necessary for ONE of (a) individual with signs/symptoms of AIS (undermasculinization, impaired spermatogenesis, absent mullerian structures) AND results directly impact management; OR (b) carrier screening of a female reproductive partner planning pregnancy with family history of AIS (X-linked); OR (c) prenatal testing of offspring of a biological parent with a confirmed AR mutation. Strategy: sequence analysis first; if negative consider deletion/duplication analysis.; Angelman syndrome: medically necessary when ALL present (gait ataxia and/or tremulous limb movement; severe developmental delay/intellectual disability; severe speech impairment; unique inappropriate happy demeanor with frequent laughing/smiling/excitability). Sequential strategy: DNA methylation analysis of 15q11-q13, then UBE3A sequence analysis if normal, then deletion/duplication/FISH/CMA, then uniparental disomy study, then imprinting-defect study.; Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): comprehensive testing (DSC2, DSG2, DSP, JUP, PKP2, TMEM43) is medically necessary for confirmed or suspected ARVD/C (>=2 minor OR 1 major Task Force criteria); mutation-specific testing is medically necessary for first- or second-degree relatives of an index case after a causative mutation is identified.; Ashkenazi Jewish carrier panel: medically necessary preconception/prenatal screening for persons of Ashkenazi Jewish ancestry for Tay-Sachs, Canavan, cystic fibrosis, familial dysautonomia, familial hyperinsulinism, Joubert syndrome, maple syrup urine disease, Bloom syndrome, Fanconi anemia, Niemann-Pick, Gaucher, glycogen storage disease type 1, mucolipidosis IV, and nemaline myopathy. If only one partner is Ashkenazi Jewish, test that partner first; test the other partner only if the first is positive.; Autosomal dominant polycystic kidney disease (PKD1, PKD2): medically necessary for adults with multiple cysts on imaging who are at high risk for rapid ESRD progression (per treating nephrologist) and are being considered for tolvaptan (Jynarque).; CADASIL: DNA testing is medically necessary for EITHER (a) pre-symptomatic individuals with a family history consistent with autosomal dominant inheritance AND a known mutation in an affected family member; OR (b) symptomatic individuals with a family history consistent with autosomal dominant inheritance (stroke, cognitive defects/dementia, migraine, psychiatric disturbances).; Catecholaminergic polymorphic ventricular tachycardia (CPVT): medically necessary when (ALL) the member has EITHER a first-degree relative with a confirmed CPVT mutation (test for the known familial mutation) OR a structurally normal heart plus syncope/cardiac arrest from VT/VF precipitated by exercise, catecholamine, or emotional stress; AND testing is targeted to CPVT genes (RYR2, CASQ2, TRDN, TECRL, CALM1, CALM2, CALM3). A cardiac ion channelopathy genomic sequencing panel followed by duplication/deletion analysis is an acceptable alternative.; Corneal dystrophy (TGFBI): medically necessary when (ALL) evaluated by an ophthalmologist with corneal dystrophy suspected; AND a parent is affected or is a known TGFBI carrier; AND results will EITHER confirm a diagnosis unclear from clinical findings (e.g., GCD2) and directly impact management OR affect reproductive decisions (individual is reproductive partner of an affected person or known carrier).; Cystic fibrosis carrier testing: medically necessary for ANY of - persons/reproductive partners seeking prenatal care; planning pregnancy; with a family history of CF; with a first-degree relative identified as a CF carrier; reproductive partners of CF-affected persons; OR a positive newborn screen, or signs/symptoms of CF plus a positive/intermediate/inconclusive sweat chloride test or where sweat test cannot be performed. The core panel of 25 ACMG-recommended CFTR mutations is medically necessary. Full CFTR gene sequencing is medically necessary ONLY for positive newborn screen, bronchiectasis, CF symptoms, or positive family history AND intermediate sweat chloride (30-59 mmol/L) on 2 occasions.; Dilated cardiomyopathy (DCM): medically necessary for EITHER (A) confirmed DCM with no identifiable cause when BOTH testing is targeted to DCM genes (BAG3, DSP, FLNC, LMNA, MYH7, RBM20, TNNT2, TTN) AND the member meets ANY of (cardiac conduction disease [first/second/third-degree block]; sudden unexplained cardiac death in a first/second-degree relative <=40 years; OR testing informs prognosis, treatment, or reproductive management); OR (B) cascade testing in an at-risk member when ALL (first-degree relative has confirmed hereditary DCM or sudden unexplained death <40 years; testing targeted to DCM genes; testing informs prognosis, treatment, or reproductive management).; Duchenne/Becker muscular dystrophy (DMD gene): medically necessary for EITHER (a) carrier screening of an asymptomatic female with an affected blood relative in whom the disease-causing mutation was identified (test for the known mutation); OR (b) an individual with characteristic features (progressive symmetric proximal weakness, calf enlargement, wheelchair dependency <13 yrs for DMD or >16 yrs for BMD) plus elevated serum creatine kinase (>10x normal in DMD males, >5x normal in BMD). Strategy: deletion/duplication analysis first, then sequence analysis if negative.; Ehlers-Danlos syndrome, vascular type (COL3A1 sequence analysis): medically necessary for EITHER (a) an asymptomatic individual with a first-degree relative diagnosed with vascular EDS in whom the mutation was identified; OR (b) a symptomatic individual to confirm diagnosis when EITHER >=1 major feature (arterial rupture; first-degree relative with vascular EDS; intestinal rupture; uterine rupture during pregnancy) OR >=2 minor features (acrogeria; carotid-cavernous sinus fistula; characteristic facial appearance; chronic joint subluxations/dislocations; clubfoot; congenital hip dislocation; early-onset varicose veins; easy bruising; gingival recession; small-joint hypermobility; pneumothorax/pneumohemothorax; tendon/muscle rupture; thin translucent skin). Strategy: sequence analysis first; if negative or VUS, consider biochemical (protein) testing.; Factor V Leiden: medically necessary with an abnormal activated protein C (APC) resistance assay result (assay requirement WAIVED if on direct oral anticoagulants) AND ANY of - (1) asymptomatic female planning/currently pregnant and not on anticoagulation with EITHER a first-degree relative with high-risk thrombophilia (antithrombin deficiency, double heterozygosity or homozygosity for FVL or prothrombin G20210A) OR a first-degree relative with VTE <50 years; (2) first unprovoked VTE at any age (especially <50); (3) first VTE plus a first-degree relative with VTE <50; (4) recurrent VTE; (5) VTE at unusual sites (cerebral, mesenteric, portal, hepatic veins); (6) VTE with oral contraceptive or HRT use; (7) VTE during pregnancy or puerperium.; Familial hypercholesterolemia (LDL-R, Apo-B, PCSK9): medically necessary for ANY of - definite or probable FH (Dutch Lipid Clinic Network score >5); a first-degree relative with a causative FH mutation; plasma total cholesterol >=310 mg/dL (>=8 mmol/L) in an adult or >=230 mg/dL (>=6 mmol/L) in a child/child family member; premature CHD in the subject or a family member; tendon xanthomas in the subject or a family member; or sudden premature cardiac death in a family member.; Familial hypocalciuric hypercalcemia (CaSR): medically necessary in ANY of - atypical cases where no family members are available for testing; families with familial isolated hyperparathyroidism; infants/children <10 years; individuals with an overlap Ca/Cr clearance ratio (0.01-0.02); or FHH phenotype with normocalcemic parents (possible de novo CaSR mutation).; Familial nephrotic syndrome: NPHS1 testing is medically necessary for children with congenital nephrotic syndrome (onset <=1 month) who are of Finnish descent OR have a family history of congenital nephrotic syndrome; NPHS2 testing is medically necessary for children with steroid-resistant nephrotic syndrome OR a family history of SRNS.; Fragile X (FMR1): medically necessary, where results affect clinical management or reproductive decisions, for ANY of - (1) individuals with developmental delay/intellectual disability, autism, or primary ovarian insufficiency (female <40 with postmenopausal FSH plus >=3 months amenorrhea/oligomenorrhea/dysfunctional bleeding); (2) progressive cerebellar ataxia plus intention tremor in individuals >50 years; (3) planning pregnancy with EITHER a family history of Fragile X OR a family history of unexplained developmental delay/ID, autism, or POI; (4) fetuses of known carrier mothers (prenatal via amnio/CVS after positive maternal carrier test). Also medically necessary for a negative cytogenetic test plus physical/behavioral Fragile X features plus family history, or for an atypical phenotype with a positive cytogenetic test.; Hereditary ataxia panel: medically necessary when ALL - signs/symptoms of hereditary ataxia present; other ataxia causes considered/ruled out (head trauma, alcoholism, vitamin B12 deficiency, MS, stroke, brain tumors, ear infections); the clinical presentation plus completed testing does NOT fit a well-described syndrome amenable to single-gene or small targeted panel testing; AND if a known familial pathogenic variant exists, single-gene testing for that variant was performed and was negative.; Hereditary hearing loss panel: medically necessary when ALL - environmental causes are ruled out and etiology is unclear; testing is targeted to hereditary hearing-loss genes (e.g., OtoGenome, OtoSeq); AND testing informs prognosis, treatment, or reproductive management.; Hereditary hemochromatosis (HFE): medically necessary for ANY of - symptoms of iron overload plus 2 consecutive transferrin saturations >=45% OR 2 consecutive elevated ferritins (>200 ng/mL men, >150 ng/mL women); a first-degree relative diagnosed with hereditary hemochromatosis; OR a first-degree relative with known HFE variants consistent with HH.; Hereditary hemoglobinopathies/thalassemias (sickle cell [HBB], alpha thalassemia [HBA1/HBA2], beta thalassemia [HBB]): carrier testing (hemoglobin electrophoresis or molecular genetic testing) is medically necessary for persons planning pregnancy or at the initial prenatal visit when no prior testing is available.; Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu): medically necessary for EITHER (a) a child/young adult who is asymptomatic AND has a biological parent with confirmed HHT AND testing targeted to ACVRL1, ENG, GDF2, or SMAD4; OR (b) a person with no prior HHT genetic testing when ALL - >=2 of (cutaneous/mucosal telangiectasias; spontaneous/recurrent epistaxis; multiple telangiectasia at characteristic sites; visceral involvement [GI telangiectasia, pulmonary/cerebral/hepatic AVMs]; first-degree relative with HHT) AND testing targeted to ACVRL1/ENG/GDF2/SMAD4 AND testing informs prognosis, treatment, or reproductive management.; Hereditary pancreatitis (PRSS1): medically necessary in symptomatic persons with ANY of - family history of pancreatitis in a first- or second-degree relative; an unexplained pancreatitis episode in a child requiring hospitalization where hereditary pancreatitis exclusion is a significant concern; recurrent (>=2 documented episodes with hyperamylasemia) acute pancreatitis without explanation (anatomical anomaly, stricture, trauma, viral, gallstones, alcohol, drugs, hyperlipidemia); OR unexplained (idiopathic) chronic pancreatitis.; Huntington disease: medically necessary for EITHER (a) predictive testing for CAG repeat length in asymptomatic individuals from HD-history families to define transmission risk; OR (b) prenatal testing for CAG repeat length in fetuses from HD-history families.; Hypertrophic cardiomyopathy (HCM): medically necessary for EITHER (A) confirmed HCM with no identifiable cause (hypertension, infiltrative/metabolic/endocrine/neuromuscular disorders, valvular disease) when BOTH testing is targeted to HCM genes (MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2) AND the member meets EITHER sudden unexplained cardiac death in a first-degree relative <=40 years OR testing informs prognosis, treatment, or reproductive management; OR (B) cascade testing in an at-risk member when ALL - first-degree relative has confirmed hereditary HCM, OR sudden unexplained death <40, OR sudden death at any age with established HCM; testing targeted to HCM genes; testing informs prognosis, treatment, or reproductive management.; Hypophosphatasia (ALPL): medically necessary to confirm a hypophosphatasia diagnosis (pathogenic variant).; Inherited bone marrow failure syndromes (IBMFS) panel: medically necessary for unexplained bone marrow failure with cytopenia when ALL - single/multi-lineage cytopenias, aplastic anemia, or MDS present; member and family history evaluated by a Board-Certified/Board-Eligible Medical Geneticist; alternate etiologies considered/ruled out (environmental exposure, injury, infection); clinical presentation does NOT fit a well-described single-gene syndrome; AND if a known familial pathogenic variant exists, single-gene testing for it was performed and was negative.; Interstitial lung disease (SP-C and ABCA3): medically necessary for infants with acute respiratory failure with no other explanation, OR older children with chronic ILD or family history, especially with imaging consistent with ILD.; Kennedy disease / spinal and bulbar muscular atrophy (AR CAG repeat): medically necessary for EITHER (a) an individual with SBMA signs/symptoms (gynecomastia, tongue/lip/perioral fasciculation, dysarthria, dysphagia, limb weakness) AND results directly impact management; OR (b) carrier screening of a female reproductive partner planning pregnancy with SBMA family history; OR (c) prenatal testing of offspring of a biological parent with a confirmed AR CAG mutation.; Left ventricular noncompaction (LVNC): medically necessary when ALL - symptomatic with LVNC evidence on echocardiogram; testing targeted to common LVNC genes (MYH7, MYBPC3, TTN); testing informs prognosis, treatment, or reproductive management. Mutation-specific testing is medically necessary for first-degree relatives of a person with a known disease-causing variant.; Legius syndrome (SPRED1): medically necessary when ALL - multiple cafe-au-lait spots present; does NOT meet NF1 diagnostic criteria; testing informs prognosis, treatment, or reproductive management.; Loeys-Dietz syndrome (TGFBR1, TGFBR2): medically necessary for EITHER (a) an asymptomatic individual with an affected first-degree relative carrying a known/suspected deleterious mutation (test for the known familial mutation); OR (b) a symptomatic individual with LDS characteristics (aortic/arterial aneurysms/tortuosity, arachnodactyly, bicuspid aortic valve, PDA, blue sclerae, camptodactyly, arterial dissections, cleft palate/bifid uvula, club feet, craniosynostosis, easy bruising, joint hypermobility, ocular hypertelorism, pectus deformity, scoliosis, talipes equinovarus, thin atrophic scars, translucent skin) to confirm diagnosis. Strategy: sequence TGFBR2 first; if no mutation, proceed to TGFBR1.; Long QT syndrome (LQTS): medically necessary when acquired causes are ruled out (drug-induced, electrolyte abnormalities, eating disorders, CAD, bradyarrhythmias) AND ONE of - symptomatic with QTc >=460 ms; QTc >=480 ms on repeated ECG with/without symptoms; asymptomatic without LQTS family history with serial QTc >=460 ms pre-puberty or >=480 ms post-puberty; high-probability Schwartz score >=3.5; intermediate probability (Schwartz 1.5-3); OR analysis of specific genes for prolonged QTc with a specific diagnosis (KCNQ1/KCNE1 Jervell-Lange-Nielsen; CACNA1C Timothy; KCNJ2 Andersen-Tawil; TRDN Triadin knockout; CALM1/CALM2/KCNQ1/KCNH2/SCN5A/TRDN Romano-Ward). Cardiac ion channelopathy genomic sequencing panel plus duplication/deletion analysis is an alternative.; Malignant hyperthermia susceptibility (RYR1): medically necessary for EITHER (a) clinically confirmed MHS persons screened for RYR1 variants considered causative by the European Malignant Hyperthermia Group (EMHG) to facilitate predictive testing in at-risk relatives; OR (b) at-risk relatives of a clinically confirmed MHS individual, screened for the known familial EMHG-causative RYR1 variant.; Marfan syndrome (FBN1): medically necessary for - (1) suspected MFS where clinical diagnostic (Ghent) criteria have not confirmed diagnosis, when BOTH no known FBN1 mutation in family AND ectopia lentis with any aortic dilation, OR significant aortic dilation (Z score >=2)/dissection only (strategy: FBN1 sequencing first, then deletion/duplication analysis); (2) an asymptomatic individual with an affected first-degree relative carrying a known/suspected deleterious mutation (test for the familial mutation); (3) prenatal diagnosis/PGD in offspring of parents with a known disease-causing variant.; Maturity onset diabetes of the young (GCK, HNF1-alpha, HNF4-alpha): medically necessary to diagnose MODY2 or MODY3 in persons with hyperglycemia/non-insulin-dependent diabetes plus a family history of abnormal glucose metabolism in >=2 consecutive generations, with the individual or >=1 family member diagnosed <25 years.; Menkes disease: medically necessary for diagnosis in children with low serum copper (0-55 ug/dL) AND low serum ceruloplasmin (10-160 mg/L).; Myotonic dystrophy type 1 (DMPK) and type 2 (CNBP): medically necessary for - (1) an individual with characteristic features (muscle weakness, muscle pain, myotonia) via targeted mutation analysis of DMPK and/or CNBP; OR (2) an asymptomatic individual when BOTH >=18 years old AND an affected first-degree relative has an identified disease-causing DM1/DM2 mutation (test for the familial mutation); OR (3) an individual who is the reproductive partner of a DM1/DM2-affected or carrier person.; Neurofibromatosis: medically necessary when (a) displays signs/clinical features of NF OR (b) has a 50% risk of inheriting NF (pre-symptomatic); AND the definitive diagnosis remains uncertain despite complete family/personal history, physical exam, and conventional diagnostic studies; AND diagnosis confirmation impacts treatment.; Noonan syndrome (PTPN11, SOS1, or KRAS): medically necessary to diagnose Noonan syndrome in persons with characteristic features to assist reproductive planning.; Oculopharyngeal muscular dystrophy (PABPN1): medically necessary for EITHER (a) an individual with OPMD signs/symptoms (ptosis, dysphagia, tongue weakness, proximal extremity weakness) AND results directly impact management; OR (b) carrier screening of persons planning pregnancy when BOTH a family history of OPMD or a known PABPN1 carrier (or the individual is the reproductive partner of an affected/carrier person) AND results will affect reproductive decisions.; Osteogenesis imperfecta (COL1A1, COL1A2 sequence testing): medically necessary for - (1) confirming parental mosaicism in an asymptomatic parent of an OI child for reproductive planning; (2) PGD or prenatal diagnosis for sequence variants when >=1 reproductive partner has OI; (3) diagnosis when clinical/radiological exam and family history are inadequate; (4) diagnosis in children to aid reproductive planning for unaffected parents seeking additional children.; Peutz-Jeghers syndrome (STK11/LKB1): may be considered for a suspected/known PJS clinical diagnosis or a known STK11/LKB1 mutation family history when medical/family history is consistent with EITHER a relative with a known deleterious STK11/LKB1 mutation OR a clinical PJS diagnosis based on >=2 of (>=2 PJS-type hamartomatous small-intestine polyps; mucocutaneous hyperpigmentation of mouth/lips/nose/eyes/genitalia/fingers; PJS family history).; Prader-Willi syndrome: medically necessary to confirm diagnosis when ONE of - birth-2 years: hypotonia with poor suck; 2-6 years: hypotonia with poor suck history plus global developmental delay; 6-12 years: hypotonia history with poor suck plus GDD plus excessive eating with central obesity (if uncontrolled); 13 years-adult: cognitive impairment (usually mild ID) plus excessive eating with central obesity (if uncontrolled) plus hypothalamic hypogonadism. Sequential strategy: DNA methylation analysis, then FISH/CMA if abnormal, then uniparental disomy study, then imprinting-defect study.; Primary dystonia (DYT1): medically necessary for - (1) parents of children with an established DYT1 mutation for family planning; (2) primary dystonia with onset other than focal cranial-cervical after age 30 with an affected relative with early onset (<30); OR (3) primary dystonia onset <30 years.; Prothrombin G20210A thrombophilia (F2): medically necessary for ANY of - (1) asymptomatic female planning/currently pregnant and not on anticoagulation with EITHER a first-degree relative with high-risk thrombophilia (antithrombin deficiency, double heterozygosity/homozygosity for FVL or prothrombin G20210A) OR a first-degree relative with VTE <50; (2) first unprovoked VTE at any age (especially <50); (3) first VTE plus a first-degree relative with VTE <50; (4) recurrent VTE; (5) VTE at unusual sites (cerebral, mesenteric, portal, hepatic veins); (6) VTE with oral contraceptive or HRT use; (7) VTE during pregnancy or puerperium.; RFC1 repeat expansion analysis: medically necessary for persons with adult-onset gait imbalance and impairment of the oculocephalic reflex (doll's eyes or visually-enhanced vestibulo-ocular reflex) where CANVAS (cerebellar ataxia, neuropathy, vestibular areflexia syndrome) is suspected.; SF3B2: testing is NOT medically necessary for hemifacial microsomia evaluation UNLESS mutation identification in an affected child provides an opportunity to test a parent to determine increased recurrence risk in future children.; SHOX-related short stature: medically necessary for children/adolescents with ANY of - above-average BMI; cubitus valgus (increased carrying angle); ulna dislocation at elbow; increased sitting-height/height ratio; Madelung forearm deformity; muscular hypertrophy; reduced arm-span/height ratio; short or bowed forearm.; Spinal muscular atrophy (SMN1, SMN2): medically necessary for - (1) carrier screening of persons/reproductive partners seeking prenatal care or planning pregnancy; (2) an individual with SMA symptoms (symmetrical proximal muscle weakness, absent/markedly decreased deep tendon reflexes); (3) asymptomatic carrier screening with ANY of (family history of SMA or SMA-like disease; an affected/carrier blood relative with an identified disease-causing mutation [test for the familial mutation]; reproductive partner of an SMA-affected/carrier individual); OR (4) prenatal diagnosis or PGD in a pregnancy of two known carriers.; Spinocerebellar ataxia (SCA): medically necessary when (ALL) the individual exhibits SCA signs/symptoms (progressive gait/limb incoordination, imbalance, dysarthria, eye-movement disturbances) AND non-genetic ataxia causes are excluded (alcoholism, MS, primary/metastatic tumors, paraneoplastic disease, vascular disease, vitamin deficiencies). Initially SCA1 (ATXN1), SCA2 (ATXN2), SCA3 (ATXN3), SCA6 (CACNA1A), SCA7 (ATXN7), and DRPLA (ATN1) are medically necessary; if normal and a high index of suspicion remains, additional genes are medically necessary (SCA5/SPTBN2, SCA8, SCA10/ATXN10, SCA12/PPP2R2B, SCA13/KCNC3, SCA14/PRKCG, SCA17/TBP, SCA27/FGF14).; Tay-Sachs disease (HEXA): carrier screening medically necessary for persons planning pregnancy or in prenatal care with ANY of - abnormal/inconclusive beta-hexosaminidase A enzyme activity; an affected/carrier family member with an identified mutation; Ashkenazi Jewish descent (self or reproductive partner); OR being the reproductive partner of a Tay-Sachs affected/carrier person. Strategy: targeted mutation panel first, then sequence analysis if negative.; Thoracic aortic aneurysms and dissections (TAAD): multigene panel testing is medically necessary for members with a confirmed aortic root/ascending aortic aneurysm or aortic dissection PLUS ANY heritable thoracic aortic disease risk factor: syndromic features (Marfan, Loeys-Dietz, vascular EDS); thoracic aortic disease <60 years; family history of thoracic aortic disease or peripheral/intracranial aneurysm in a first/second-degree relative; or unexplained sudden death at a relatively young age in a first/second-degree relative.; Tuberous sclerosis complex (TSC1/TSC2): medically necessary to confirm a tuberous sclerosis complex diagnosis.; Unverricht-Lundborg disease / EPM1 (CSTB): medically necessary for EITHER (a) an individual with EPM1 signs/symptoms (involuntary stimulus-sensitive myoclonus, tonic-clonic seizures, abnormal EEG, marked photosensitivity, ataxia, dysarthria) AND results directly impact management; OR (b) carrier screening of persons planning pregnancy when BOTH a family history of EPM1 or a known CSTB carrier (or reproductive partner of an affected/carrier person) AND results will affect reproductive decisions; OR (c) prenatal testing when both biological parents have confirmed CSTB mutations.; Versiti aHUS genetic evaluation panel: medically necessary for diagnosis of atypical hemolytic uremic syndrome (aHUS).; Versiti autosomal dominant thrombocytopenia panel: medically necessary when (a) family history consistent with dominantly inherited thrombocytopenia AND single-gene/targeted testing for that variant was performed and negative; OR (b) the clinical presentation does NOT fit a well-described syndrome amenable to single-gene/targeted testing; AND acquired/nongenetic causes are considered/ruled out (environmental exposure, infection).; Versiti congenital neutropenia panel: medically necessary to confirm severe congenital neutropenia when BOTH the clinical presentation is consistent with SCN (recurrent infections/fevers, absolute neutrophil count <500/microL) AND testing informs prognosis and treatment selection.; Von Hippel-Lindau disease (VHL): medically necessary when EITHER (a) the individual has a first/second-degree relative with a known/suspected deleterious VHL mutation (test for the specific familial mutation); OR (b) the individual has a personal history of >=1 of (clear cell renal cell carcinoma; endolymphatic sac tumor; epididymal/adnexal papillary cystadenoma; hemangioblastoma; multiple renal and/or pancreatic cysts; pancreatic neuroendocrine tumors; pancreatic serous cystadenomas; pheochromocytoma/paraganglioma; retinal angioma). Strategy: VHL sequence analysis first, then deletion/duplication analysis if negative.; Von Willebrand disease (VWD): targeted genetic testing is medically necessary to (a) diagnose type 2B VWD for individuals suspected of type 2A or 2B needing additional testing; or (b) for suspected type 2N VWD requiring additional testing.; Whole exome/genome sequencing (WES/WGS) for unexplained congenital/neurodevelopmental disorder: medically necessary when ALL - (1) a genetic etiology is most likely based on ANY of (multiple congenital abnormalities affecting unrelated organ systems; bilateral sensorineural hearing loss with negative/inconclusive targeted panel; autism spectrum disorder with syndromic features where CGH/targeted panel does not explain it; intractable/early-onset epilepsy meeting all of [>=2 unprovoked seizures >24h apart, unexplained etiology, age <=21, prior >=20-gene epilepsy panel not done or non-diagnostic, no prior WES/WGS]; OR TWO of [structural/functional abnormality of >=1 organ system; global developmental delay/ID/complex neurodevelopmental symptoms or severe neuropsychiatric condition; family history strongly suggestive incl. consanguinity; unexplained developmental regression; biochemical findings suggestive of inborn error of metabolism]); (2) a Board-Certified/Board-Eligible Medical Geneticist has evaluated/consulted (EXCEPTION: for GDD/ID, a neurologist or experienced developmental pediatrician may substitute if a geneticist is unavailable); (3) pre- and post-test counseling by an appropriate independent provider (not a genetics-lab employee), e.g., an ABMG/ABGC-certified Genetic Counselor or a GNCC/ANCC-credentialed Advanced Practice Nurse in Genetics; (4) alternate etiologies considered/ruled out; (5) the presentation does NOT fit a well-described single-gene/targeted-panel syndrome; (6) WES/WGS is more efficient than separate tests given high genetic heterogeneity; (7) diagnosis cannot be made by standard clinical workup (excluding invasive procedures such as muscle biopsy); and (8) the test is predicted to impact health outcomes (guiding prognosis/decision-making, reducing diagnostic uncertainty, or informing pregnancy planning/recurrence risk).; WES/WGS family trio testing of biologic parents/sibling of an affected child is medically necessary when the criteria for the child's WES/WGS are met. WES/WGS data re-analysis is medically necessary when the above medical-necessity criteria are met at the time re-analysis is considered.; Rapid genome/exome sequencing (rGS): medically necessary for acutely-ill members <=21 years when all WES/WGS medical-necessity criteria are met.; Fetal exome/genome sequencing (via amniocentesis/CVS/PUBS): medically necessary when ALL - the fetus is affected with non-immune hydrops fetalis; current-pregnancy karyotype and/or microarray was performed with uninformative results; AND alternate etiologies considered/ruled out (environmental exposure, injury, infection, maternal condition).; Repeat germline genetic testing: medically necessary if the existing result is inconsistent with the individual's clinical presentation, OR the test methodology has changed and may yield a different result impacting management.. Applies to 28 codes: 81161, 81162, 81163, 81164, 81165, 81166, 81167, 81187, 81206, 81207, 81208, 81210, 81225, 81226, 81235, 81240, 81241, 81243, 81244, 81256, 81257, 81301, 81415, 81416, 81417, 81425, 81426, 81427.
Action
Confirm prior-authorization status with Aetna before scheduling — it is code- and plan-specific, and this policy is not an exact authorization source. Documentation: For genetic testing of a non-Aetna member: a copy of the denial letter from the non-Aetna member's own benefit plan must be submitted (testing is only covered when the non-member's plan will not cover the test).; Aetna may request a certificate of coverage when: the denial letter fails to specify the basis for non-coverage, the denial is based on a plan exclusion, or the genetic test was denied as not medically necessary without a clear explanation of the lack of medical benefit.; For WES/WGS: documentation of evaluation/consultation by a Board-Certified or Board-Eligible Medical Geneticist (or, for global developmental delay/intellectual disability, a neurologist or experienced developmental pediatrician if a geneticist is unavailable), and documentation of pre- and post-test counseling by an appropriate independent provider (e.g., ABMG/ABGC-certified Genetic Counselor or GNCC/ANCC-credentialed Advanced Practice Nurse in Genetics).
Trap
Policy exclusions and limitations: Repeat carrier screening: experimental/investigational/unproven.; Targeted carrier screening: NOT medically necessary for any indication other than a known familial mutation or a specific condition based on family history.; Cystic fibrosis screening beyond the standard 25-mutation ACMG CFTR panel (or full sequencing outside the listed indications): experimental/investigational/unproven.; Fragile X population-based screening of individuals not in the listed risk categories: experimental/investigational/unproven.; Hereditary hemochromatosis general-population screening: experimental/investigational/unproven.; Spinal muscular atrophy general-population SMN1 deletion screening: experimental/investigational/unproven.; Unverricht-Lundborg disease (EPM1) general-population CSTB carrier screening: experimental/investigational/unproven.; Corneal dystrophy TGFBI general-population screening: experimental/investigational/unproven.; Ehlers-Danlos syndrome - other types, deletion/duplication analysis, and general-population screening: experimental/investigational/unproven. Specifically excluded EDS subtypes: arthrochalasia type (COL1A1, COL1A2); dermatosparaxis type (ADAMTS2); hypermobility type (TNXB); kyphoscoliotic type (PLOD1); classic type (COL5A1, COL5A2).; GNE and VCP genetic testing for Ehlers-Danlos syndrome and osteogenesis imperfecta: experimental/investigational/unproven.; Marfan syndrome - other indications (minor features only; TGFBR1/TGFBR2 testing for Marfan; individuals already meeting Ghent criteria when not used for reproductive decisions): experimental/investigational/unproven.; Myotonic dystrophy type 2 - CNBP sequence analysis: experimental/investigational/unproven.; Osteogenesis imperfecta - diagnostic confirmation when clinical/radiological exam and family history are already adequate, and other circumstances: experimental/investigational/unproven.; Familial nephrotic syndrome - screening of other nephrotic persons and steroid-responsive cases: experimental/investigational/unproven.; Non-invasive prenatal diagnosis of sickle cell disease via cfDNA: experimental/investigational/unproven (not recommended by ACOG).; Whole genome sequencing (WGS) after a non-diagnostic whole exome sequencing (WES): NOT medically necessary absent specific information regarding knowledge advances or WGS value for the specific presentation (diagnostic yield considered negligible).; Rapid genome/exome sequencing (rGS): NOT medically necessary for isolated transient neonatal tachypnea; isolated unconjugated hyperbilirubinemia; isolated hypoxic-ischemic encephalopathy with a clear precipitating event; isolated meconium aspiration; isolated prematurity; or infection/sepsis with normal response to therapy.; WES/WGS - NOT medically necessary if a prior targeted epilepsy panel already identified a pathogenic/likely pathogenic variant sufficient to explain the presentation.; Fetal exome/genome sequencing for all indications other than non-immune hydrops fetalis with uninformative karyotype/microarray (including general pregnancy evaluation or terminated fetus): experimental/investigational/unproven.; Age-related macular degeneration testing (e.g., Macula Risk, AMDiGuard, RetnaGene): experimental/investigational/unproven.; Brugada syndrome (SCN5A gene analysis): experimental/investigational/unproven.; Choroidal neovascularization (RetnaGene): experimental/investigational/unproven.; Congenital stationary night blindness panels (e.g., CACNA1F, NYX, TRPM1): experimental/investigational/unproven.; Coronary artery disease genetic testing (except familial hypercholesterolemia): experimental/investigational/unproven.; Costello syndrome (HRAS gene): experimental/investigational/unproven.; Diamond-Blackfan anemia genetic testing: experimental/investigational/unproven.; Epidermolytic hyperkeratosis genetic testing: experimental/investigational/unproven.; Essential tremor genetic testing (e.g., PGmax Movement Disorders Panel): experimental/investigational/unproven.; Facioscapulohumeral muscular dystrophy (FSHD) genetic testing: experimental/investigational/unproven.; Familial Alzheimer disease genetic testing (multiple panels): experimental/investigational/unproven.; Familial amyotrophic lateral sclerosis (C9orf72, FUS, TARDBP mutations; SOD1 addressed in CPB 0715): experimental/investigational/unproven.; Familial cold urticaria / familial cold autoinflammatory syndrome genetic testing: experimental/investigational/unproven.; Familial partial lipodystrophy (FPLD2) genetic testing: experimental/investigational/unproven.; Frizzled class receptor 6 (FZD6) gene sequencing for nail dystrophy: experimental/investigational/unproven.; CLCN1 genetic testing for congenital myotonia: experimental/investigational/unproven.; Interstitial lung disease genetic testing in adults (multiple panels): experimental/investigational/unproven.; Titin (TTN) gene testing for familial dilated cardiomyopathy: experimental/investigational/unproven.; Genetic testing panels for colon cancer syndromes (as panels): experimental/investigational/unproven.; Genetic testing panels (except CGH) for autism/pervasive developmental disorders (except the medically-necessary indications listed in policy): experimental/investigational/unproven.; Genetic testing panels for X-linked intellectual disability: experimental/investigational/unproven.; Glioblastoma multiforme genetic testing: experimental/investigational/unproven.; Glomerulopathy Gene Set: experimental/investigational/unproven.; HADHB testing for breast cancer: experimental/investigational/unproven.; Hemiplegic migraine genetic testing: experimental/investigational/unproven.; Hemophilia C (F11 / Factor XI) genetic testing: experimental/investigational/unproven.; Heterotaxy genetic testing: experimental/investigational/unproven.; Klippel-Feil syndrome genetic testing: experimental/investigational/unproven.; Lactose intolerance genetic testing: experimental/investigational/unproven.; Malignant melanoma (CDKN2A/p16) genetic testing (e.g., Melaris): experimental/investigational/unproven.; May-Hegglin anomaly genetic testing: experimental/investigational/unproven.; McCune-Albright syndrome genetic testing: experimental/investigational/unproven.; Mowat-Wilson syndrome (ZEB2 gene) genetic testing: experimental/investigational/unproven.; MTHFR testing for essential hypertension: experimental/investigational/unproven.; Multiple mitochondrial respiratory chain complex deficiencies genetic testing: experimental/investigational/unproven.; Myoclonus-dystonia (epsilon-sarcoglycan/SGCE deletion analysis): experimental/investigational/unproven.; Migrainous vertigo genetic testing: experimental/investigational/unproven.; Narcolepsy (HLA-DQB1*06:02 testing): experimental/investigational/unproven.; Next-generation sequencing for diagnosis of learning disabilities in children: experimental/investigational/unproven.; Osteoporosis (isolated, non-syndromic) genetic testing (multiple panels): experimental/investigational/unproven.; Parkinson disease genetic testing (multiple panels): experimental/investigational/unproven.; Polycystic liver disease genetic testing: experimental/investigational/unproven.; Seizure disorders genetic testing (except the identified medically-necessary indications), e.g., creatine transporter 1 sequencing of parents, GABRG2 for infantile febrile seizures, GEFS+: experimental/investigational/unproven.; Short Multiply Aggregated Sequence Homologies (SMASH): experimental/investigational/unproven.; Sleep-walking testing (HLA-DQB1*05:01 typing; Circadian/Complex Sleep Disorders Panel): experimental/investigational/unproven.; Townes-Brocks syndrome (SALL1 gene): experimental/investigational/unproven.; Type 2 diabetes genetic testing (except MODY) (multiple panels): experimental/investigational/unproven.; Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) genetic testing: experimental/investigational/unproven.; Von Willebrand factor gene testing (except the type 2B/2N additional-testing indications): experimental/investigational/unproven.; deCODE tests (AF, BreastCancer, Glaucoma, MI, PrCa, T2): experimental/investigational/unproven.; Epigenetic methylation assay (EpiSign): experimental/investigational/unproven.; EpiSEEK test for epilepsy/seizures: experimental/investigational/unproven.; Genetic Addiction Risk Score (GARSPREDX): experimental/investigational/unproven.; GeneticsNow Comprehensive: experimental/investigational/unproven.; Home genetic tests: experimental/investigational/unproven.; Lifetime Genomics Risk Assessment for VTE: experimental/investigational/unproven.; MTHFR genetic testing for hereditary thrombophilia risk: experimental/investigational/unproven.; Multigene panels (except the medically-necessary indications), e.g., CancerNext Expanded, Coloseq, Invitae Melanoma Panel, Invitae Melanoma-Pancreatic Cancer Panel, Invitae Thyroid Cancer Panel, MelanomaNext, MyPhenome Hungry Gut, ProstateNow: experimental/investigational/unproven.; Nuclear encoded mitochondrial genomic sequencing panel: experimental/investigational/unproven.; Optical genome mapping for cancer/genetic diseases: experimental/investigational/unproven.; OtoSCOPE Genetic Hearing Loss Panel: experimental/investigational/unproven.; Plasminogen activator inhibitor-1 (PAI-1) testing for inherited thrombophilia: experimental/investigational/unproven.; POLG1 testing for mitochondrial recessive ataxia syndrome: experimental/investigational/unproven.; PROSTOX ultra: experimental/investigational/unproven.; Septo-optic Dysplasia Spectrum Sequencing Panel: experimental/investigational/unproven.; Single nucleotide polymorphism testing for breast cancer (OncoVue, BREVAGen): experimental/investigational/unproven.; SLCO1B1 testing for statin-induced myopathy: experimental/investigational/unproven.; SLIT1 testing for Asperger syndrome: experimental/investigational/unproven.; Versiti panels (various, including Coagulation Disorders, Comprehensive Bleeding Disorder, Comprehensive Platelet Disorder, Fibrinolytic Disorder, Inherited Thrombocytopenia, Platelet Function Disorder, Red Cell Genotyping, Thrombosis): experimental/investigational/unproven.; Whole mitochondrial genome sequencing: experimental/investigational/unproven.; Whole transcriptome sequencing for unexplained constitutional/heritable disorders/syndromes: experimental/investigational/unproven.; APC mRNA sequence analysis (CustomNext + RNA, Ambry Genetics): experimental/investigational/unproven.; Factor V HR2 allele DNA mutation analysis: experimental/investigational/unproven.; Factor V Leiden HR2 / Factor V HR2 allele and central core disease (CCD) genetic testing: experimental/investigational/unproven.; SF3B2 testing for hemifacial microsomia evaluation: NOT medically necessary unless identifying the mutation in an affected child enables testing a parent to determine recurrence risk in future children.; Genetic testing of a non-Aetna member: excluded unless ALL of - the information is needed to adequately assess risk in the Aetna member, the information will be used in the Aetna member's immediate care plan, AND the non-Aetna member's benefit plan (if any) will not cover the test (a copy of the denial letter is required). Claims may be denied when the requested service falls under these. Some of these are conditional (note the stated exceptions) — confirm specifics against the bulletin.

Source: Aetna CPB 0140 — Genetic Testing

Coverage criteria

  • General requirement (meet ALL): genetic testing is medically necessary only when (a) the member displays clinical features of, OR is at direct risk of inheriting, the mutation in question (pre-symptomatic testing), AND (b) the result will directly impact the treatment/management delivered to the member, AND (c) after history, physical exam, pedigree analysis, genetic counseling, and conventional/non-genetic diagnostic studies the diagnosis remains uncertain, AND (d) the disease-specific medical-necessity criteria below are met.
  • Multi-gene/disease panels are medically necessary ONLY when the patient has a personal/family history of the related condition, more than one inherited syndrome could explain the presentation, AND the panel is a more efficient strategy than sequential single-gene testing for the differential diagnosis.
  • Familial colorectal, endometrial, or gastric cancer: germline testing is medically necessary when NCCN testing criteria for the specific syndrome are met (Lynch syndrome [HRS-2], Adenomatous Polyposis [POLYP-1], Juvenile Polyposis [JPS-1], Peutz-Jeghers [PJS1], Hereditary Diffuse Gastric Cancer [HGAST1], Serrated Polyposis [SPS1], Li-Fraumeni and Cowden per NCCN guidelines); considered a once-in-a-lifetime benefit.
  • Prenatal/preconception carrier screening: medically necessary for pregnant or planning-pregnancy individuals when (ALL) an expanded panel (unless previously performed) includes cystic fibrosis, spinal muscular atrophy, and/or hemoglobinopathies, AND the results will be used in pregnancy/fetal management or family planning. Pan-ethnic carrier panel (>=15 genes) is medically necessary once per lifetime for recessively inherited conditions with carrier frequency >=1/200 (2021 ACMG). Targeted carrier screening is medically necessary for a known familial mutation or specific condition based on family history.
  • Androgen Insensitivity Syndrome (AR gene sequence analysis): medically necessary for ONE of (a) individual with signs/symptoms of AIS (undermasculinization, impaired spermatogenesis, absent mullerian structures) AND results directly impact management; OR (b) carrier screening of a female reproductive partner planning pregnancy with family history of AIS (X-linked); OR (c) prenatal testing of offspring of a biological parent with a confirmed AR mutation. Strategy: sequence analysis first; if negative consider deletion/duplication analysis.
  • Angelman syndrome: medically necessary when ALL present (gait ataxia and/or tremulous limb movement; severe developmental delay/intellectual disability; severe speech impairment; unique inappropriate happy demeanor with frequent laughing/smiling/excitability). Sequential strategy: DNA methylation analysis of 15q11-q13, then UBE3A sequence analysis if normal, then deletion/duplication/FISH/CMA, then uniparental disomy study, then imprinting-defect study.
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): comprehensive testing (DSC2, DSG2, DSP, JUP, PKP2, TMEM43) is medically necessary for confirmed or suspected ARVD/C (>=2 minor OR 1 major Task Force criteria); mutation-specific testing is medically necessary for first- or second-degree relatives of an index case after a causative mutation is identified.
  • Ashkenazi Jewish carrier panel: medically necessary preconception/prenatal screening for persons of Ashkenazi Jewish ancestry for Tay-Sachs, Canavan, cystic fibrosis, familial dysautonomia, familial hyperinsulinism, Joubert syndrome, maple syrup urine disease, Bloom syndrome, Fanconi anemia, Niemann-Pick, Gaucher, glycogen storage disease type 1, mucolipidosis IV, and nemaline myopathy. If only one partner is Ashkenazi Jewish, test that partner first; test the other partner only if the first is positive.
  • Autosomal dominant polycystic kidney disease (PKD1, PKD2): medically necessary for adults with multiple cysts on imaging who are at high risk for rapid ESRD progression (per treating nephrologist) and are being considered for tolvaptan (Jynarque).
  • CADASIL: DNA testing is medically necessary for EITHER (a) pre-symptomatic individuals with a family history consistent with autosomal dominant inheritance AND a known mutation in an affected family member; OR (b) symptomatic individuals with a family history consistent with autosomal dominant inheritance (stroke, cognitive defects/dementia, migraine, psychiatric disturbances).
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT): medically necessary when (ALL) the member has EITHER a first-degree relative with a confirmed CPVT mutation (test for the known familial mutation) OR a structurally normal heart plus syncope/cardiac arrest from VT/VF precipitated by exercise, catecholamine, or emotional stress; AND testing is targeted to CPVT genes (RYR2, CASQ2, TRDN, TECRL, CALM1, CALM2, CALM3). A cardiac ion channelopathy genomic sequencing panel followed by duplication/deletion analysis is an acceptable alternative.
  • Corneal dystrophy (TGFBI): medically necessary when (ALL) evaluated by an ophthalmologist with corneal dystrophy suspected; AND a parent is affected or is a known TGFBI carrier; AND results will EITHER confirm a diagnosis unclear from clinical findings (e.g., GCD2) and directly impact management OR affect reproductive decisions (individual is reproductive partner of an affected person or known carrier).
  • Cystic fibrosis carrier testing: medically necessary for ANY of - persons/reproductive partners seeking prenatal care; planning pregnancy; with a family history of CF; with a first-degree relative identified as a CF carrier; reproductive partners of CF-affected persons; OR a positive newborn screen, or signs/symptoms of CF plus a positive/intermediate/inconclusive sweat chloride test or where sweat test cannot be performed. The core panel of 25 ACMG-recommended CFTR mutations is medically necessary. Full CFTR gene sequencing is medically necessary ONLY for positive newborn screen, bronchiectasis, CF symptoms, or positive family history AND intermediate sweat chloride (30-59 mmol/L) on 2 occasions.
  • Dilated cardiomyopathy (DCM): medically necessary for EITHER (A) confirmed DCM with no identifiable cause when BOTH testing is targeted to DCM genes (BAG3, DSP, FLNC, LMNA, MYH7, RBM20, TNNT2, TTN) AND the member meets ANY of (cardiac conduction disease [first/second/third-degree block]; sudden unexplained cardiac death in a first/second-degree relative <=40 years; OR testing informs prognosis, treatment, or reproductive management); OR (B) cascade testing in an at-risk member when ALL (first-degree relative has confirmed hereditary DCM or sudden unexplained death <40 years; testing targeted to DCM genes; testing informs prognosis, treatment, or reproductive management).
  • Duchenne/Becker muscular dystrophy (DMD gene): medically necessary for EITHER (a) carrier screening of an asymptomatic female with an affected blood relative in whom the disease-causing mutation was identified (test for the known mutation); OR (b) an individual with characteristic features (progressive symmetric proximal weakness, calf enlargement, wheelchair dependency <13 yrs for DMD or >16 yrs for BMD) plus elevated serum creatine kinase (>10x normal in DMD males, >5x normal in BMD). Strategy: deletion/duplication analysis first, then sequence analysis if negative.
  • Ehlers-Danlos syndrome, vascular type (COL3A1 sequence analysis): medically necessary for EITHER (a) an asymptomatic individual with a first-degree relative diagnosed with vascular EDS in whom the mutation was identified; OR (b) a symptomatic individual to confirm diagnosis when EITHER >=1 major feature (arterial rupture; first-degree relative with vascular EDS; intestinal rupture; uterine rupture during pregnancy) OR >=2 minor features (acrogeria; carotid-cavernous sinus fistula; characteristic facial appearance; chronic joint subluxations/dislocations; clubfoot; congenital hip dislocation; early-onset varicose veins; easy bruising; gingival recession; small-joint hypermobility; pneumothorax/pneumohemothorax; tendon/muscle rupture; thin translucent skin). Strategy: sequence analysis first; if negative or VUS, consider biochemical (protein) testing.
  • Factor V Leiden: medically necessary with an abnormal activated protein C (APC) resistance assay result (assay requirement WAIVED if on direct oral anticoagulants) AND ANY of - (1) asymptomatic female planning/currently pregnant and not on anticoagulation with EITHER a first-degree relative with high-risk thrombophilia (antithrombin deficiency, double heterozygosity or homozygosity for FVL or prothrombin G20210A) OR a first-degree relative with VTE <50 years; (2) first unprovoked VTE at any age (especially <50); (3) first VTE plus a first-degree relative with VTE <50; (4) recurrent VTE; (5) VTE at unusual sites (cerebral, mesenteric, portal, hepatic veins); (6) VTE with oral contraceptive or HRT use; (7) VTE during pregnancy or puerperium.
  • Familial hypercholesterolemia (LDL-R, Apo-B, PCSK9): medically necessary for ANY of - definite or probable FH (Dutch Lipid Clinic Network score >5); a first-degree relative with a causative FH mutation; plasma total cholesterol >=310 mg/dL (>=8 mmol/L) in an adult or >=230 mg/dL (>=6 mmol/L) in a child/child family member; premature CHD in the subject or a family member; tendon xanthomas in the subject or a family member; or sudden premature cardiac death in a family member.
  • Familial hypocalciuric hypercalcemia (CaSR): medically necessary in ANY of - atypical cases where no family members are available for testing; families with familial isolated hyperparathyroidism; infants/children <10 years; individuals with an overlap Ca/Cr clearance ratio (0.01-0.02); or FHH phenotype with normocalcemic parents (possible de novo CaSR mutation).
  • Familial nephrotic syndrome: NPHS1 testing is medically necessary for children with congenital nephrotic syndrome (onset <=1 month) who are of Finnish descent OR have a family history of congenital nephrotic syndrome; NPHS2 testing is medically necessary for children with steroid-resistant nephrotic syndrome OR a family history of SRNS.
  • Fragile X (FMR1): medically necessary, where results affect clinical management or reproductive decisions, for ANY of - (1) individuals with developmental delay/intellectual disability, autism, or primary ovarian insufficiency (female <40 with postmenopausal FSH plus >=3 months amenorrhea/oligomenorrhea/dysfunctional bleeding); (2) progressive cerebellar ataxia plus intention tremor in individuals >50 years; (3) planning pregnancy with EITHER a family history of Fragile X OR a family history of unexplained developmental delay/ID, autism, or POI; (4) fetuses of known carrier mothers (prenatal via amnio/CVS after positive maternal carrier test). Also medically necessary for a negative cytogenetic test plus physical/behavioral Fragile X features plus family history, or for an atypical phenotype with a positive cytogenetic test.
  • Hereditary ataxia panel: medically necessary when ALL - signs/symptoms of hereditary ataxia present; other ataxia causes considered/ruled out (head trauma, alcoholism, vitamin B12 deficiency, MS, stroke, brain tumors, ear infections); the clinical presentation plus completed testing does NOT fit a well-described syndrome amenable to single-gene or small targeted panel testing; AND if a known familial pathogenic variant exists, single-gene testing for that variant was performed and was negative.
  • Hereditary hearing loss panel: medically necessary when ALL - environmental causes are ruled out and etiology is unclear; testing is targeted to hereditary hearing-loss genes (e.g., OtoGenome, OtoSeq); AND testing informs prognosis, treatment, or reproductive management.
  • Hereditary hemochromatosis (HFE): medically necessary for ANY of - symptoms of iron overload plus 2 consecutive transferrin saturations >=45% OR 2 consecutive elevated ferritins (>200 ng/mL men, >150 ng/mL women); a first-degree relative diagnosed with hereditary hemochromatosis; OR a first-degree relative with known HFE variants consistent with HH.
  • Hereditary hemoglobinopathies/thalassemias (sickle cell [HBB], alpha thalassemia [HBA1/HBA2], beta thalassemia [HBB]): carrier testing (hemoglobin electrophoresis or molecular genetic testing) is medically necessary for persons planning pregnancy or at the initial prenatal visit when no prior testing is available.
  • Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu): medically necessary for EITHER (a) a child/young adult who is asymptomatic AND has a biological parent with confirmed HHT AND testing targeted to ACVRL1, ENG, GDF2, or SMAD4; OR (b) a person with no prior HHT genetic testing when ALL - >=2 of (cutaneous/mucosal telangiectasias; spontaneous/recurrent epistaxis; multiple telangiectasia at characteristic sites; visceral involvement [GI telangiectasia, pulmonary/cerebral/hepatic AVMs]; first-degree relative with HHT) AND testing targeted to ACVRL1/ENG/GDF2/SMAD4 AND testing informs prognosis, treatment, or reproductive management.
  • Hereditary pancreatitis (PRSS1): medically necessary in symptomatic persons with ANY of - family history of pancreatitis in a first- or second-degree relative; an unexplained pancreatitis episode in a child requiring hospitalization where hereditary pancreatitis exclusion is a significant concern; recurrent (>=2 documented episodes with hyperamylasemia) acute pancreatitis without explanation (anatomical anomaly, stricture, trauma, viral, gallstones, alcohol, drugs, hyperlipidemia); OR unexplained (idiopathic) chronic pancreatitis.
  • Huntington disease: medically necessary for EITHER (a) predictive testing for CAG repeat length in asymptomatic individuals from HD-history families to define transmission risk; OR (b) prenatal testing for CAG repeat length in fetuses from HD-history families.
  • Hypertrophic cardiomyopathy (HCM): medically necessary for EITHER (A) confirmed HCM with no identifiable cause (hypertension, infiltrative/metabolic/endocrine/neuromuscular disorders, valvular disease) when BOTH testing is targeted to HCM genes (MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2) AND the member meets EITHER sudden unexplained cardiac death in a first-degree relative <=40 years OR testing informs prognosis, treatment, or reproductive management; OR (B) cascade testing in an at-risk member when ALL - first-degree relative has confirmed hereditary HCM, OR sudden unexplained death <40, OR sudden death at any age with established HCM; testing targeted to HCM genes; testing informs prognosis, treatment, or reproductive management.
  • Hypophosphatasia (ALPL): medically necessary to confirm a hypophosphatasia diagnosis (pathogenic variant).
  • Inherited bone marrow failure syndromes (IBMFS) panel: medically necessary for unexplained bone marrow failure with cytopenia when ALL - single/multi-lineage cytopenias, aplastic anemia, or MDS present; member and family history evaluated by a Board-Certified/Board-Eligible Medical Geneticist; alternate etiologies considered/ruled out (environmental exposure, injury, infection); clinical presentation does NOT fit a well-described single-gene syndrome; AND if a known familial pathogenic variant exists, single-gene testing for it was performed and was negative.
  • Interstitial lung disease (SP-C and ABCA3): medically necessary for infants with acute respiratory failure with no other explanation, OR older children with chronic ILD or family history, especially with imaging consistent with ILD.
  • Kennedy disease / spinal and bulbar muscular atrophy (AR CAG repeat): medically necessary for EITHER (a) an individual with SBMA signs/symptoms (gynecomastia, tongue/lip/perioral fasciculation, dysarthria, dysphagia, limb weakness) AND results directly impact management; OR (b) carrier screening of a female reproductive partner planning pregnancy with SBMA family history; OR (c) prenatal testing of offspring of a biological parent with a confirmed AR CAG mutation.
  • Left ventricular noncompaction (LVNC): medically necessary when ALL - symptomatic with LVNC evidence on echocardiogram; testing targeted to common LVNC genes (MYH7, MYBPC3, TTN); testing informs prognosis, treatment, or reproductive management. Mutation-specific testing is medically necessary for first-degree relatives of a person with a known disease-causing variant.
  • Legius syndrome (SPRED1): medically necessary when ALL - multiple cafe-au-lait spots present; does NOT meet NF1 diagnostic criteria; testing informs prognosis, treatment, or reproductive management.
  • Loeys-Dietz syndrome (TGFBR1, TGFBR2): medically necessary for EITHER (a) an asymptomatic individual with an affected first-degree relative carrying a known/suspected deleterious mutation (test for the known familial mutation); OR (b) a symptomatic individual with LDS characteristics (aortic/arterial aneurysms/tortuosity, arachnodactyly, bicuspid aortic valve, PDA, blue sclerae, camptodactyly, arterial dissections, cleft palate/bifid uvula, club feet, craniosynostosis, easy bruising, joint hypermobility, ocular hypertelorism, pectus deformity, scoliosis, talipes equinovarus, thin atrophic scars, translucent skin) to confirm diagnosis. Strategy: sequence TGFBR2 first; if no mutation, proceed to TGFBR1.
  • Long QT syndrome (LQTS): medically necessary when acquired causes are ruled out (drug-induced, electrolyte abnormalities, eating disorders, CAD, bradyarrhythmias) AND ONE of - symptomatic with QTc >=460 ms; QTc >=480 ms on repeated ECG with/without symptoms; asymptomatic without LQTS family history with serial QTc >=460 ms pre-puberty or >=480 ms post-puberty; high-probability Schwartz score >=3.5; intermediate probability (Schwartz 1.5-3); OR analysis of specific genes for prolonged QTc with a specific diagnosis (KCNQ1/KCNE1 Jervell-Lange-Nielsen; CACNA1C Timothy; KCNJ2 Andersen-Tawil; TRDN Triadin knockout; CALM1/CALM2/KCNQ1/KCNH2/SCN5A/TRDN Romano-Ward). Cardiac ion channelopathy genomic sequencing panel plus duplication/deletion analysis is an alternative.
  • Malignant hyperthermia susceptibility (RYR1): medically necessary for EITHER (a) clinically confirmed MHS persons screened for RYR1 variants considered causative by the European Malignant Hyperthermia Group (EMHG) to facilitate predictive testing in at-risk relatives; OR (b) at-risk relatives of a clinically confirmed MHS individual, screened for the known familial EMHG-causative RYR1 variant.
  • Marfan syndrome (FBN1): medically necessary for - (1) suspected MFS where clinical diagnostic (Ghent) criteria have not confirmed diagnosis, when BOTH no known FBN1 mutation in family AND ectopia lentis with any aortic dilation, OR significant aortic dilation (Z score >=2)/dissection only (strategy: FBN1 sequencing first, then deletion/duplication analysis); (2) an asymptomatic individual with an affected first-degree relative carrying a known/suspected deleterious mutation (test for the familial mutation); (3) prenatal diagnosis/PGD in offspring of parents with a known disease-causing variant.
  • Maturity onset diabetes of the young (GCK, HNF1-alpha, HNF4-alpha): medically necessary to diagnose MODY2 or MODY3 in persons with hyperglycemia/non-insulin-dependent diabetes plus a family history of abnormal glucose metabolism in >=2 consecutive generations, with the individual or >=1 family member diagnosed <25 years.
  • Menkes disease: medically necessary for diagnosis in children with low serum copper (0-55 ug/dL) AND low serum ceruloplasmin (10-160 mg/L).
  • Myotonic dystrophy type 1 (DMPK) and type 2 (CNBP): medically necessary for - (1) an individual with characteristic features (muscle weakness, muscle pain, myotonia) via targeted mutation analysis of DMPK and/or CNBP; OR (2) an asymptomatic individual when BOTH >=18 years old AND an affected first-degree relative has an identified disease-causing DM1/DM2 mutation (test for the familial mutation); OR (3) an individual who is the reproductive partner of a DM1/DM2-affected or carrier person.
  • Neurofibromatosis: medically necessary when (a) displays signs/clinical features of NF OR (b) has a 50% risk of inheriting NF (pre-symptomatic); AND the definitive diagnosis remains uncertain despite complete family/personal history, physical exam, and conventional diagnostic studies; AND diagnosis confirmation impacts treatment.
  • Noonan syndrome (PTPN11, SOS1, or KRAS): medically necessary to diagnose Noonan syndrome in persons with characteristic features to assist reproductive planning.
  • Oculopharyngeal muscular dystrophy (PABPN1): medically necessary for EITHER (a) an individual with OPMD signs/symptoms (ptosis, dysphagia, tongue weakness, proximal extremity weakness) AND results directly impact management; OR (b) carrier screening of persons planning pregnancy when BOTH a family history of OPMD or a known PABPN1 carrier (or the individual is the reproductive partner of an affected/carrier person) AND results will affect reproductive decisions.
  • Osteogenesis imperfecta (COL1A1, COL1A2 sequence testing): medically necessary for - (1) confirming parental mosaicism in an asymptomatic parent of an OI child for reproductive planning; (2) PGD or prenatal diagnosis for sequence variants when >=1 reproductive partner has OI; (3) diagnosis when clinical/radiological exam and family history are inadequate; (4) diagnosis in children to aid reproductive planning for unaffected parents seeking additional children.
  • Peutz-Jeghers syndrome (STK11/LKB1): may be considered for a suspected/known PJS clinical diagnosis or a known STK11/LKB1 mutation family history when medical/family history is consistent with EITHER a relative with a known deleterious STK11/LKB1 mutation OR a clinical PJS diagnosis based on >=2 of (>=2 PJS-type hamartomatous small-intestine polyps; mucocutaneous hyperpigmentation of mouth/lips/nose/eyes/genitalia/fingers; PJS family history).
  • Prader-Willi syndrome: medically necessary to confirm diagnosis when ONE of - birth-2 years: hypotonia with poor suck; 2-6 years: hypotonia with poor suck history plus global developmental delay; 6-12 years: hypotonia history with poor suck plus GDD plus excessive eating with central obesity (if uncontrolled); 13 years-adult: cognitive impairment (usually mild ID) plus excessive eating with central obesity (if uncontrolled) plus hypothalamic hypogonadism. Sequential strategy: DNA methylation analysis, then FISH/CMA if abnormal, then uniparental disomy study, then imprinting-defect study.
  • Primary dystonia (DYT1): medically necessary for - (1) parents of children with an established DYT1 mutation for family planning; (2) primary dystonia with onset other than focal cranial-cervical after age 30 with an affected relative with early onset (<30); OR (3) primary dystonia onset <30 years.
  • Prothrombin G20210A thrombophilia (F2): medically necessary for ANY of - (1) asymptomatic female planning/currently pregnant and not on anticoagulation with EITHER a first-degree relative with high-risk thrombophilia (antithrombin deficiency, double heterozygosity/homozygosity for FVL or prothrombin G20210A) OR a first-degree relative with VTE <50; (2) first unprovoked VTE at any age (especially <50); (3) first VTE plus a first-degree relative with VTE <50; (4) recurrent VTE; (5) VTE at unusual sites (cerebral, mesenteric, portal, hepatic veins); (6) VTE with oral contraceptive or HRT use; (7) VTE during pregnancy or puerperium.
  • RFC1 repeat expansion analysis: medically necessary for persons with adult-onset gait imbalance and impairment of the oculocephalic reflex (doll's eyes or visually-enhanced vestibulo-ocular reflex) where CANVAS (cerebellar ataxia, neuropathy, vestibular areflexia syndrome) is suspected.
  • SF3B2: testing is NOT medically necessary for hemifacial microsomia evaluation UNLESS mutation identification in an affected child provides an opportunity to test a parent to determine increased recurrence risk in future children.
  • SHOX-related short stature: medically necessary for children/adolescents with ANY of - above-average BMI; cubitus valgus (increased carrying angle); ulna dislocation at elbow; increased sitting-height/height ratio; Madelung forearm deformity; muscular hypertrophy; reduced arm-span/height ratio; short or bowed forearm.
  • Spinal muscular atrophy (SMN1, SMN2): medically necessary for - (1) carrier screening of persons/reproductive partners seeking prenatal care or planning pregnancy; (2) an individual with SMA symptoms (symmetrical proximal muscle weakness, absent/markedly decreased deep tendon reflexes); (3) asymptomatic carrier screening with ANY of (family history of SMA or SMA-like disease; an affected/carrier blood relative with an identified disease-causing mutation [test for the familial mutation]; reproductive partner of an SMA-affected/carrier individual); OR (4) prenatal diagnosis or PGD in a pregnancy of two known carriers.
  • Spinocerebellar ataxia (SCA): medically necessary when (ALL) the individual exhibits SCA signs/symptoms (progressive gait/limb incoordination, imbalance, dysarthria, eye-movement disturbances) AND non-genetic ataxia causes are excluded (alcoholism, MS, primary/metastatic tumors, paraneoplastic disease, vascular disease, vitamin deficiencies). Initially SCA1 (ATXN1), SCA2 (ATXN2), SCA3 (ATXN3), SCA6 (CACNA1A), SCA7 (ATXN7), and DRPLA (ATN1) are medically necessary; if normal and a high index of suspicion remains, additional genes are medically necessary (SCA5/SPTBN2, SCA8, SCA10/ATXN10, SCA12/PPP2R2B, SCA13/KCNC3, SCA14/PRKCG, SCA17/TBP, SCA27/FGF14).
  • Tay-Sachs disease (HEXA): carrier screening medically necessary for persons planning pregnancy or in prenatal care with ANY of - abnormal/inconclusive beta-hexosaminidase A enzyme activity; an affected/carrier family member with an identified mutation; Ashkenazi Jewish descent (self or reproductive partner); OR being the reproductive partner of a Tay-Sachs affected/carrier person. Strategy: targeted mutation panel first, then sequence analysis if negative.
  • Thoracic aortic aneurysms and dissections (TAAD): multigene panel testing is medically necessary for members with a confirmed aortic root/ascending aortic aneurysm or aortic dissection PLUS ANY heritable thoracic aortic disease risk factor: syndromic features (Marfan, Loeys-Dietz, vascular EDS); thoracic aortic disease <60 years; family history of thoracic aortic disease or peripheral/intracranial aneurysm in a first/second-degree relative; or unexplained sudden death at a relatively young age in a first/second-degree relative.
  • Tuberous sclerosis complex (TSC1/TSC2): medically necessary to confirm a tuberous sclerosis complex diagnosis.
  • Unverricht-Lundborg disease / EPM1 (CSTB): medically necessary for EITHER (a) an individual with EPM1 signs/symptoms (involuntary stimulus-sensitive myoclonus, tonic-clonic seizures, abnormal EEG, marked photosensitivity, ataxia, dysarthria) AND results directly impact management; OR (b) carrier screening of persons planning pregnancy when BOTH a family history of EPM1 or a known CSTB carrier (or reproductive partner of an affected/carrier person) AND results will affect reproductive decisions; OR (c) prenatal testing when both biological parents have confirmed CSTB mutations.
  • Versiti aHUS genetic evaluation panel: medically necessary for diagnosis of atypical hemolytic uremic syndrome (aHUS).
  • Versiti autosomal dominant thrombocytopenia panel: medically necessary when (a) family history consistent with dominantly inherited thrombocytopenia AND single-gene/targeted testing for that variant was performed and negative; OR (b) the clinical presentation does NOT fit a well-described syndrome amenable to single-gene/targeted testing; AND acquired/nongenetic causes are considered/ruled out (environmental exposure, infection).
  • Versiti congenital neutropenia panel: medically necessary to confirm severe congenital neutropenia when BOTH the clinical presentation is consistent with SCN (recurrent infections/fevers, absolute neutrophil count <500/microL) AND testing informs prognosis and treatment selection.
  • Von Hippel-Lindau disease (VHL): medically necessary when EITHER (a) the individual has a first/second-degree relative with a known/suspected deleterious VHL mutation (test for the specific familial mutation); OR (b) the individual has a personal history of >=1 of (clear cell renal cell carcinoma; endolymphatic sac tumor; epididymal/adnexal papillary cystadenoma; hemangioblastoma; multiple renal and/or pancreatic cysts; pancreatic neuroendocrine tumors; pancreatic serous cystadenomas; pheochromocytoma/paraganglioma; retinal angioma). Strategy: VHL sequence analysis first, then deletion/duplication analysis if negative.
  • Von Willebrand disease (VWD): targeted genetic testing is medically necessary to (a) diagnose type 2B VWD for individuals suspected of type 2A or 2B needing additional testing; or (b) for suspected type 2N VWD requiring additional testing.
  • Whole exome/genome sequencing (WES/WGS) for unexplained congenital/neurodevelopmental disorder: medically necessary when ALL - (1) a genetic etiology is most likely based on ANY of (multiple congenital abnormalities affecting unrelated organ systems; bilateral sensorineural hearing loss with negative/inconclusive targeted panel; autism spectrum disorder with syndromic features where CGH/targeted panel does not explain it; intractable/early-onset epilepsy meeting all of [>=2 unprovoked seizures >24h apart, unexplained etiology, age <=21, prior >=20-gene epilepsy panel not done or non-diagnostic, no prior WES/WGS]; OR TWO of [structural/functional abnormality of >=1 organ system; global developmental delay/ID/complex neurodevelopmental symptoms or severe neuropsychiatric condition; family history strongly suggestive incl. consanguinity; unexplained developmental regression; biochemical findings suggestive of inborn error of metabolism]); (2) a Board-Certified/Board-Eligible Medical Geneticist has evaluated/consulted (EXCEPTION: for GDD/ID, a neurologist or experienced developmental pediatrician may substitute if a geneticist is unavailable); (3) pre- and post-test counseling by an appropriate independent provider (not a genetics-lab employee), e.g., an ABMG/ABGC-certified Genetic Counselor or a GNCC/ANCC-credentialed Advanced Practice Nurse in Genetics; (4) alternate etiologies considered/ruled out; (5) the presentation does NOT fit a well-described single-gene/targeted-panel syndrome; (6) WES/WGS is more efficient than separate tests given high genetic heterogeneity; (7) diagnosis cannot be made by standard clinical workup (excluding invasive procedures such as muscle biopsy); and (8) the test is predicted to impact health outcomes (guiding prognosis/decision-making, reducing diagnostic uncertainty, or informing pregnancy planning/recurrence risk).
  • WES/WGS family trio testing of biologic parents/sibling of an affected child is medically necessary when the criteria for the child's WES/WGS are met. WES/WGS data re-analysis is medically necessary when the above medical-necessity criteria are met at the time re-analysis is considered.
  • Rapid genome/exome sequencing (rGS): medically necessary for acutely-ill members <=21 years when all WES/WGS medical-necessity criteria are met.
  • Fetal exome/genome sequencing (via amniocentesis/CVS/PUBS): medically necessary when ALL - the fetus is affected with non-immune hydrops fetalis; current-pregnancy karyotype and/or microarray was performed with uninformative results; AND alternate etiologies considered/ruled out (environmental exposure, injury, infection, maternal condition).
  • Repeat germline genetic testing: medically necessary if the existing result is inconsistent with the individual's clinical presentation, OR the test methodology has changed and may yield a different result impacting management.

Covered codes

Codes listed in this Aetna policy. Check each one's prior-authorization verdict and Medicare rate:

Documentation required

  • For genetic testing of a non-Aetna member: a copy of the denial letter from the non-Aetna member's own benefit plan must be submitted (testing is only covered when the non-member's plan will not cover the test).
  • Aetna may request a certificate of coverage when: the denial letter fails to specify the basis for non-coverage, the denial is based on a plan exclusion, or the genetic test was denied as not medically necessary without a clear explanation of the lack of medical benefit.
  • For WES/WGS: documentation of evaluation/consultation by a Board-Certified or Board-Eligible Medical Geneticist (or, for global developmental delay/intellectual disability, a neurologist or experienced developmental pediatrician if a geneticist is unavailable), and documentation of pre- and post-test counseling by an appropriate independent provider (e.g., ABMG/ABGC-certified Genetic Counselor or GNCC/ANCC-credentialed Advanced Practice Nurse in Genetics).

Frequently asked questions

When does Aetna cover Genetic Testing (CPT 81161), and what gets it denied?
Aetna CPB 0140 covers germline genetic testing as medically necessary only when the member has clinical features of (or direct inherited risk for) the condition, the result will directly change management, the diagnosis remains uncertain after standard non-genetic workup and genetic counseling, and the specific disease/gene criteria (spanning roughly 60+ named conditions plus whole exome/genome sequencing) are met; multi-gene panels and WES/WGS require that they be more efficient than single-gene testing and, for WES/WGS, geneticist involvement plus pre/post-test counseling. A large catalog of conditions, panels, and brand-name tests is explicitly experimental/investigational, and the bulletin is silent on precertification. Coverage criteria include: General requirement (meet ALL): genetic testing is medically necessary only when (a) the member displays clinical features of, OR is at direct risk of inheriting, the mutation in question (pre-symptomatic testing), AND (b) the result will directly impact the treatment/management delivered to the member, AND (c) after history, physical exam, pedigree analysis, genetic counseling, and conventional/non-genetic diagnostic studies the diagnosis remains uncertain, AND (d) the disease-specific medical-necessity criteria below are met.; Multi-gene/disease panels are medically necessary ONLY when the patient has a personal/family history of the related condition, more than one inherited syndrome could explain the presentation, AND the panel is a more efficient strategy than sequential single-gene testing for the differential diagnosis.; Familial colorectal, endometrial, or gastric cancer: germline testing is medically necessary when NCCN testing criteria for the specific syndrome are met (Lynch syndrome [HRS-2], Adenomatous Polyposis [POLYP-1], Juvenile Polyposis [JPS-1], Peutz-Jeghers [PJS1], Hereditary Diffuse Gastric Cancer [HGAST1], Serrated Polyposis [SPS1], Li-Fraumeni and Cowden per NCCN guidelines); considered a once-in-a-lifetime benefit.; Prenatal/preconception carrier screening: medically necessary for pregnant or planning-pregnancy individuals when (ALL) an expanded panel (unless previously performed) includes cystic fibrosis, spinal muscular atrophy, and/or hemoglobinopathies, AND the results will be used in pregnancy/fetal management or family planning. Pan-ethnic carrier panel (>=15 genes) is medically necessary once per lifetime for recessively inherited conditions with carrier frequency >=1/200 (2021 ACMG). Targeted carrier screening is medically necessary for a known familial mutation or specific condition based on family history.; Androgen Insensitivity Syndrome (AR gene sequence analysis): medically necessary for ONE of (a) individual with signs/symptoms of AIS (undermasculinization, impaired spermatogenesis, absent mullerian structures) AND results directly impact management; OR (b) carrier screening of a female reproductive partner planning pregnancy with family history of AIS (X-linked); OR (c) prenatal testing of offspring of a biological parent with a confirmed AR mutation. Strategy: sequence analysis first; if negative consider deletion/duplication analysis.; Angelman syndrome: medically necessary when ALL present (gait ataxia and/or tremulous limb movement; severe developmental delay/intellectual disability; severe speech impairment; unique inappropriate happy demeanor with frequent laughing/smiling/excitability). Sequential strategy: DNA methylation analysis of 15q11-q13, then UBE3A sequence analysis if normal, then deletion/duplication/FISH/CMA, then uniparental disomy study, then imprinting-defect study.; Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): comprehensive testing (DSC2, DSG2, DSP, JUP, PKP2, TMEM43) is medically necessary for confirmed or suspected ARVD/C (>=2 minor OR 1 major Task Force criteria); mutation-specific testing is medically necessary for first- or second-degree relatives of an index case after a causative mutation is identified.; Ashkenazi Jewish carrier panel: medically necessary preconception/prenatal screening for persons of Ashkenazi Jewish ancestry for Tay-Sachs, Canavan, cystic fibrosis, familial dysautonomia, familial hyperinsulinism, Joubert syndrome, maple syrup urine disease, Bloom syndrome, Fanconi anemia, Niemann-Pick, Gaucher, glycogen storage disease type 1, mucolipidosis IV, and nemaline myopathy. If only one partner is Ashkenazi Jewish, test that partner first; test the other partner only if the first is positive.; Autosomal dominant polycystic kidney disease (PKD1, PKD2): medically necessary for adults with multiple cysts on imaging who are at high risk for rapid ESRD progression (per treating nephrologist) and are being considered for tolvaptan (Jynarque).; CADASIL: DNA testing is medically necessary for EITHER (a) pre-symptomatic individuals with a family history consistent with autosomal dominant inheritance AND a known mutation in an affected family member; OR (b) symptomatic individuals with a family history consistent with autosomal dominant inheritance (stroke, cognitive defects/dementia, migraine, psychiatric disturbances).; Catecholaminergic polymorphic ventricular tachycardia (CPVT): medically necessary when (ALL) the member has EITHER a first-degree relative with a confirmed CPVT mutation (test for the known familial mutation) OR a structurally normal heart plus syncope/cardiac arrest from VT/VF precipitated by exercise, catecholamine, or emotional stress; AND testing is targeted to CPVT genes (RYR2, CASQ2, TRDN, TECRL, CALM1, CALM2, CALM3). A cardiac ion channelopathy genomic sequencing panel followed by duplication/deletion analysis is an acceptable alternative.; Corneal dystrophy (TGFBI): medically necessary when (ALL) evaluated by an ophthalmologist with corneal dystrophy suspected; AND a parent is affected or is a known TGFBI carrier; AND results will EITHER confirm a diagnosis unclear from clinical findings (e.g., GCD2) and directly impact management OR affect reproductive decisions (individual is reproductive partner of an affected person or known carrier).; Cystic fibrosis carrier testing: medically necessary for ANY of - persons/reproductive partners seeking prenatal care; planning pregnancy; with a family history of CF; with a first-degree relative identified as a CF carrier; reproductive partners of CF-affected persons; OR a positive newborn screen, or signs/symptoms of CF plus a positive/intermediate/inconclusive sweat chloride test or where sweat test cannot be performed. The core panel of 25 ACMG-recommended CFTR mutations is medically necessary. Full CFTR gene sequencing is medically necessary ONLY for positive newborn screen, bronchiectasis, CF symptoms, or positive family history AND intermediate sweat chloride (30-59 mmol/L) on 2 occasions.; Dilated cardiomyopathy (DCM): medically necessary for EITHER (A) confirmed DCM with no identifiable cause when BOTH testing is targeted to DCM genes (BAG3, DSP, FLNC, LMNA, MYH7, RBM20, TNNT2, TTN) AND the member meets ANY of (cardiac conduction disease [first/second/third-degree block]; sudden unexplained cardiac death in a first/second-degree relative <=40 years; OR testing informs prognosis, treatment, or reproductive management); OR (B) cascade testing in an at-risk member when ALL (first-degree relative has confirmed hereditary DCM or sudden unexplained death <40 years; testing targeted to DCM genes; testing informs prognosis, treatment, or reproductive management).; Duchenne/Becker muscular dystrophy (DMD gene): medically necessary for EITHER (a) carrier screening of an asymptomatic female with an affected blood relative in whom the disease-causing mutation was identified (test for the known mutation); OR (b) an individual with characteristic features (progressive symmetric proximal weakness, calf enlargement, wheelchair dependency <13 yrs for DMD or >16 yrs for BMD) plus elevated serum creatine kinase (>10x normal in DMD males, >5x normal in BMD). Strategy: deletion/duplication analysis first, then sequence analysis if negative.; Ehlers-Danlos syndrome, vascular type (COL3A1 sequence analysis): medically necessary for EITHER (a) an asymptomatic individual with a first-degree relative diagnosed with vascular EDS in whom the mutation was identified; OR (b) a symptomatic individual to confirm diagnosis when EITHER >=1 major feature (arterial rupture; first-degree relative with vascular EDS; intestinal rupture; uterine rupture during pregnancy) OR >=2 minor features (acrogeria; carotid-cavernous sinus fistula; characteristic facial appearance; chronic joint subluxations/dislocations; clubfoot; congenital hip dislocation; early-onset varicose veins; easy bruising; gingival recession; small-joint hypermobility; pneumothorax/pneumohemothorax; tendon/muscle rupture; thin translucent skin). Strategy: sequence analysis first; if negative or VUS, consider biochemical (protein) testing.; Factor V Leiden: medically necessary with an abnormal activated protein C (APC) resistance assay result (assay requirement WAIVED if on direct oral anticoagulants) AND ANY of - (1) asymptomatic female planning/currently pregnant and not on anticoagulation with EITHER a first-degree relative with high-risk thrombophilia (antithrombin deficiency, double heterozygosity or homozygosity for FVL or prothrombin G20210A) OR a first-degree relative with VTE <50 years; (2) first unprovoked VTE at any age (especially <50); (3) first VTE plus a first-degree relative with VTE <50; (4) recurrent VTE; (5) VTE at unusual sites (cerebral, mesenteric, portal, hepatic veins); (6) VTE with oral contraceptive or HRT use; (7) VTE during pregnancy or puerperium.; Familial hypercholesterolemia (LDL-R, Apo-B, PCSK9): medically necessary for ANY of - definite or probable FH (Dutch Lipid Clinic Network score >5); a first-degree relative with a causative FH mutation; plasma total cholesterol >=310 mg/dL (>=8 mmol/L) in an adult or >=230 mg/dL (>=6 mmol/L) in a child/child family member; premature CHD in the subject or a family member; tendon xanthomas in the subject or a family member; or sudden premature cardiac death in a family member.; Familial hypocalciuric hypercalcemia (CaSR): medically necessary in ANY of - atypical cases where no family members are available for testing; families with familial isolated hyperparathyroidism; infants/children <10 years; individuals with an overlap Ca/Cr clearance ratio (0.01-0.02); or FHH phenotype with normocalcemic parents (possible de novo CaSR mutation).; Familial nephrotic syndrome: NPHS1 testing is medically necessary for children with congenital nephrotic syndrome (onset <=1 month) who are of Finnish descent OR have a family history of congenital nephrotic syndrome; NPHS2 testing is medically necessary for children with steroid-resistant nephrotic syndrome OR a family history of SRNS.; Fragile X (FMR1): medically necessary, where results affect clinical management or reproductive decisions, for ANY of - (1) individuals with developmental delay/intellectual disability, autism, or primary ovarian insufficiency (female <40 with postmenopausal FSH plus >=3 months amenorrhea/oligomenorrhea/dysfunctional bleeding); (2) progressive cerebellar ataxia plus intention tremor in individuals >50 years; (3) planning pregnancy with EITHER a family history of Fragile X OR a family history of unexplained developmental delay/ID, autism, or POI; (4) fetuses of known carrier mothers (prenatal via amnio/CVS after positive maternal carrier test). Also medically necessary for a negative cytogenetic test plus physical/behavioral Fragile X features plus family history, or for an atypical phenotype with a positive cytogenetic test.; Hereditary ataxia panel: medically necessary when ALL - signs/symptoms of hereditary ataxia present; other ataxia causes considered/ruled out (head trauma, alcoholism, vitamin B12 deficiency, MS, stroke, brain tumors, ear infections); the clinical presentation plus completed testing does NOT fit a well-described syndrome amenable to single-gene or small targeted panel testing; AND if a known familial pathogenic variant exists, single-gene testing for that variant was performed and was negative.; Hereditary hearing loss panel: medically necessary when ALL - environmental causes are ruled out and etiology is unclear; testing is targeted to hereditary hearing-loss genes (e.g., OtoGenome, OtoSeq); AND testing informs prognosis, treatment, or reproductive management.; Hereditary hemochromatosis (HFE): medically necessary for ANY of - symptoms of iron overload plus 2 consecutive transferrin saturations >=45% OR 2 consecutive elevated ferritins (>200 ng/mL men, >150 ng/mL women); a first-degree relative diagnosed with hereditary hemochromatosis; OR a first-degree relative with known HFE variants consistent with HH.; Hereditary hemoglobinopathies/thalassemias (sickle cell [HBB], alpha thalassemia [HBA1/HBA2], beta thalassemia [HBB]): carrier testing (hemoglobin electrophoresis or molecular genetic testing) is medically necessary for persons planning pregnancy or at the initial prenatal visit when no prior testing is available.; Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu): medically necessary for EITHER (a) a child/young adult who is asymptomatic AND has a biological parent with confirmed HHT AND testing targeted to ACVRL1, ENG, GDF2, or SMAD4; OR (b) a person with no prior HHT genetic testing when ALL - >=2 of (cutaneous/mucosal telangiectasias; spontaneous/recurrent epistaxis; multiple telangiectasia at characteristic sites; visceral involvement [GI telangiectasia, pulmonary/cerebral/hepatic AVMs]; first-degree relative with HHT) AND testing targeted to ACVRL1/ENG/GDF2/SMAD4 AND testing informs prognosis, treatment, or reproductive management.; Hereditary pancreatitis (PRSS1): medically necessary in symptomatic persons with ANY of - family history of pancreatitis in a first- or second-degree relative; an unexplained pancreatitis episode in a child requiring hospitalization where hereditary pancreatitis exclusion is a significant concern; recurrent (>=2 documented episodes with hyperamylasemia) acute pancreatitis without explanation (anatomical anomaly, stricture, trauma, viral, gallstones, alcohol, drugs, hyperlipidemia); OR unexplained (idiopathic) chronic pancreatitis.; Huntington disease: medically necessary for EITHER (a) predictive testing for CAG repeat length in asymptomatic individuals from HD-history families to define transmission risk; OR (b) prenatal testing for CAG repeat length in fetuses from HD-history families.; Hypertrophic cardiomyopathy (HCM): medically necessary for EITHER (A) confirmed HCM with no identifiable cause (hypertension, infiltrative/metabolic/endocrine/neuromuscular disorders, valvular disease) when BOTH testing is targeted to HCM genes (MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2) AND the member meets EITHER sudden unexplained cardiac death in a first-degree relative <=40 years OR testing informs prognosis, treatment, or reproductive management; OR (B) cascade testing in an at-risk member when ALL - first-degree relative has confirmed hereditary HCM, OR sudden unexplained death <40, OR sudden death at any age with established HCM; testing targeted to HCM genes; testing informs prognosis, treatment, or reproductive management.; Hypophosphatasia (ALPL): medically necessary to confirm a hypophosphatasia diagnosis (pathogenic variant).; Inherited bone marrow failure syndromes (IBMFS) panel: medically necessary for unexplained bone marrow failure with cytopenia when ALL - single/multi-lineage cytopenias, aplastic anemia, or MDS present; member and family history evaluated by a Board-Certified/Board-Eligible Medical Geneticist; alternate etiologies considered/ruled out (environmental exposure, injury, infection); clinical presentation does NOT fit a well-described single-gene syndrome; AND if a known familial pathogenic variant exists, single-gene testing for it was performed and was negative.; Interstitial lung disease (SP-C and ABCA3): medically necessary for infants with acute respiratory failure with no other explanation, OR older children with chronic ILD or family history, especially with imaging consistent with ILD.; Kennedy disease / spinal and bulbar muscular atrophy (AR CAG repeat): medically necessary for EITHER (a) an individual with SBMA signs/symptoms (gynecomastia, tongue/lip/perioral fasciculation, dysarthria, dysphagia, limb weakness) AND results directly impact management; OR (b) carrier screening of a female reproductive partner planning pregnancy with SBMA family history; OR (c) prenatal testing of offspring of a biological parent with a confirmed AR CAG mutation.; Left ventricular noncompaction (LVNC): medically necessary when ALL - symptomatic with LVNC evidence on echocardiogram; testing targeted to common LVNC genes (MYH7, MYBPC3, TTN); testing informs prognosis, treatment, or reproductive management. Mutation-specific testing is medically necessary for first-degree relatives of a person with a known disease-causing variant.; Legius syndrome (SPRED1): medically necessary when ALL - multiple cafe-au-lait spots present; does NOT meet NF1 diagnostic criteria; testing informs prognosis, treatment, or reproductive management.; Loeys-Dietz syndrome (TGFBR1, TGFBR2): medically necessary for EITHER (a) an asymptomatic individual with an affected first-degree relative carrying a known/suspected deleterious mutation (test for the known familial mutation); OR (b) a symptomatic individual with LDS characteristics (aortic/arterial aneurysms/tortuosity, arachnodactyly, bicuspid aortic valve, PDA, blue sclerae, camptodactyly, arterial dissections, cleft palate/bifid uvula, club feet, craniosynostosis, easy bruising, joint hypermobility, ocular hypertelorism, pectus deformity, scoliosis, talipes equinovarus, thin atrophic scars, translucent skin) to confirm diagnosis. Strategy: sequence TGFBR2 first; if no mutation, proceed to TGFBR1.; Long QT syndrome (LQTS): medically necessary when acquired causes are ruled out (drug-induced, electrolyte abnormalities, eating disorders, CAD, bradyarrhythmias) AND ONE of - symptomatic with QTc >=460 ms; QTc >=480 ms on repeated ECG with/without symptoms; asymptomatic without LQTS family history with serial QTc >=460 ms pre-puberty or >=480 ms post-puberty; high-probability Schwartz score >=3.5; intermediate probability (Schwartz 1.5-3); OR analysis of specific genes for prolonged QTc with a specific diagnosis (KCNQ1/KCNE1 Jervell-Lange-Nielsen; CACNA1C Timothy; KCNJ2 Andersen-Tawil; TRDN Triadin knockout; CALM1/CALM2/KCNQ1/KCNH2/SCN5A/TRDN Romano-Ward). Cardiac ion channelopathy genomic sequencing panel plus duplication/deletion analysis is an alternative.; Malignant hyperthermia susceptibility (RYR1): medically necessary for EITHER (a) clinically confirmed MHS persons screened for RYR1 variants considered causative by the European Malignant Hyperthermia Group (EMHG) to facilitate predictive testing in at-risk relatives; OR (b) at-risk relatives of a clinically confirmed MHS individual, screened for the known familial EMHG-causative RYR1 variant.; Marfan syndrome (FBN1): medically necessary for - (1) suspected MFS where clinical diagnostic (Ghent) criteria have not confirmed diagnosis, when BOTH no known FBN1 mutation in family AND ectopia lentis with any aortic dilation, OR significant aortic dilation (Z score >=2)/dissection only (strategy: FBN1 sequencing first, then deletion/duplication analysis); (2) an asymptomatic individual with an affected first-degree relative carrying a known/suspected deleterious mutation (test for the familial mutation); (3) prenatal diagnosis/PGD in offspring of parents with a known disease-causing variant.; Maturity onset diabetes of the young (GCK, HNF1-alpha, HNF4-alpha): medically necessary to diagnose MODY2 or MODY3 in persons with hyperglycemia/non-insulin-dependent diabetes plus a family history of abnormal glucose metabolism in >=2 consecutive generations, with the individual or >=1 family member diagnosed <25 years.; Menkes disease: medically necessary for diagnosis in children with low serum copper (0-55 ug/dL) AND low serum ceruloplasmin (10-160 mg/L).; Myotonic dystrophy type 1 (DMPK) and type 2 (CNBP): medically necessary for - (1) an individual with characteristic features (muscle weakness, muscle pain, myotonia) via targeted mutation analysis of DMPK and/or CNBP; OR (2) an asymptomatic individual when BOTH >=18 years old AND an affected first-degree relative has an identified disease-causing DM1/DM2 mutation (test for the familial mutation); OR (3) an individual who is the reproductive partner of a DM1/DM2-affected or carrier person.; Neurofibromatosis: medically necessary when (a) displays signs/clinical features of NF OR (b) has a 50% risk of inheriting NF (pre-symptomatic); AND the definitive diagnosis remains uncertain despite complete family/personal history, physical exam, and conventional diagnostic studies; AND diagnosis confirmation impacts treatment.; Noonan syndrome (PTPN11, SOS1, or KRAS): medically necessary to diagnose Noonan syndrome in persons with characteristic features to assist reproductive planning.; Oculopharyngeal muscular dystrophy (PABPN1): medically necessary for EITHER (a) an individual with OPMD signs/symptoms (ptosis, dysphagia, tongue weakness, proximal extremity weakness) AND results directly impact management; OR (b) carrier screening of persons planning pregnancy when BOTH a family history of OPMD or a known PABPN1 carrier (or the individual is the reproductive partner of an affected/carrier person) AND results will affect reproductive decisions.; Osteogenesis imperfecta (COL1A1, COL1A2 sequence testing): medically necessary for - (1) confirming parental mosaicism in an asymptomatic parent of an OI child for reproductive planning; (2) PGD or prenatal diagnosis for sequence variants when >=1 reproductive partner has OI; (3) diagnosis when clinical/radiological exam and family history are inadequate; (4) diagnosis in children to aid reproductive planning for unaffected parents seeking additional children.; Peutz-Jeghers syndrome (STK11/LKB1): may be considered for a suspected/known PJS clinical diagnosis or a known STK11/LKB1 mutation family history when medical/family history is consistent with EITHER a relative with a known deleterious STK11/LKB1 mutation OR a clinical PJS diagnosis based on >=2 of (>=2 PJS-type hamartomatous small-intestine polyps; mucocutaneous hyperpigmentation of mouth/lips/nose/eyes/genitalia/fingers; PJS family history).; Prader-Willi syndrome: medically necessary to confirm diagnosis when ONE of - birth-2 years: hypotonia with poor suck; 2-6 years: hypotonia with poor suck history plus global developmental delay; 6-12 years: hypotonia history with poor suck plus GDD plus excessive eating with central obesity (if uncontrolled); 13 years-adult: cognitive impairment (usually mild ID) plus excessive eating with central obesity (if uncontrolled) plus hypothalamic hypogonadism. Sequential strategy: DNA methylation analysis, then FISH/CMA if abnormal, then uniparental disomy study, then imprinting-defect study.; Primary dystonia (DYT1): medically necessary for - (1) parents of children with an established DYT1 mutation for family planning; (2) primary dystonia with onset other than focal cranial-cervical after age 30 with an affected relative with early onset (<30); OR (3) primary dystonia onset <30 years.; Prothrombin G20210A thrombophilia (F2): medically necessary for ANY of - (1) asymptomatic female planning/currently pregnant and not on anticoagulation with EITHER a first-degree relative with high-risk thrombophilia (antithrombin deficiency, double heterozygosity/homozygosity for FVL or prothrombin G20210A) OR a first-degree relative with VTE <50; (2) first unprovoked VTE at any age (especially <50); (3) first VTE plus a first-degree relative with VTE <50; (4) recurrent VTE; (5) VTE at unusual sites (cerebral, mesenteric, portal, hepatic veins); (6) VTE with oral contraceptive or HRT use; (7) VTE during pregnancy or puerperium.; RFC1 repeat expansion analysis: medically necessary for persons with adult-onset gait imbalance and impairment of the oculocephalic reflex (doll's eyes or visually-enhanced vestibulo-ocular reflex) where CANVAS (cerebellar ataxia, neuropathy, vestibular areflexia syndrome) is suspected.; SF3B2: testing is NOT medically necessary for hemifacial microsomia evaluation UNLESS mutation identification in an affected child provides an opportunity to test a parent to determine increased recurrence risk in future children.; SHOX-related short stature: medically necessary for children/adolescents with ANY of - above-average BMI; cubitus valgus (increased carrying angle); ulna dislocation at elbow; increased sitting-height/height ratio; Madelung forearm deformity; muscular hypertrophy; reduced arm-span/height ratio; short or bowed forearm.; Spinal muscular atrophy (SMN1, SMN2): medically necessary for - (1) carrier screening of persons/reproductive partners seeking prenatal care or planning pregnancy; (2) an individual with SMA symptoms (symmetrical proximal muscle weakness, absent/markedly decreased deep tendon reflexes); (3) asymptomatic carrier screening with ANY of (family history of SMA or SMA-like disease; an affected/carrier blood relative with an identified disease-causing mutation [test for the familial mutation]; reproductive partner of an SMA-affected/carrier individual); OR (4) prenatal diagnosis or PGD in a pregnancy of two known carriers.; Spinocerebellar ataxia (SCA): medically necessary when (ALL) the individual exhibits SCA signs/symptoms (progressive gait/limb incoordination, imbalance, dysarthria, eye-movement disturbances) AND non-genetic ataxia causes are excluded (alcoholism, MS, primary/metastatic tumors, paraneoplastic disease, vascular disease, vitamin deficiencies). Initially SCA1 (ATXN1), SCA2 (ATXN2), SCA3 (ATXN3), SCA6 (CACNA1A), SCA7 (ATXN7), and DRPLA (ATN1) are medically necessary; if normal and a high index of suspicion remains, additional genes are medically necessary (SCA5/SPTBN2, SCA8, SCA10/ATXN10, SCA12/PPP2R2B, SCA13/KCNC3, SCA14/PRKCG, SCA17/TBP, SCA27/FGF14).; Tay-Sachs disease (HEXA): carrier screening medically necessary for persons planning pregnancy or in prenatal care with ANY of - abnormal/inconclusive beta-hexosaminidase A enzyme activity; an affected/carrier family member with an identified mutation; Ashkenazi Jewish descent (self or reproductive partner); OR being the reproductive partner of a Tay-Sachs affected/carrier person. Strategy: targeted mutation panel first, then sequence analysis if negative.; Thoracic aortic aneurysms and dissections (TAAD): multigene panel testing is medically necessary for members with a confirmed aortic root/ascending aortic aneurysm or aortic dissection PLUS ANY heritable thoracic aortic disease risk factor: syndromic features (Marfan, Loeys-Dietz, vascular EDS); thoracic aortic disease <60 years; family history of thoracic aortic disease or peripheral/intracranial aneurysm in a first/second-degree relative; or unexplained sudden death at a relatively young age in a first/second-degree relative.; Tuberous sclerosis complex (TSC1/TSC2): medically necessary to confirm a tuberous sclerosis complex diagnosis.; Unverricht-Lundborg disease / EPM1 (CSTB): medically necessary for EITHER (a) an individual with EPM1 signs/symptoms (involuntary stimulus-sensitive myoclonus, tonic-clonic seizures, abnormal EEG, marked photosensitivity, ataxia, dysarthria) AND results directly impact management; OR (b) carrier screening of persons planning pregnancy when BOTH a family history of EPM1 or a known CSTB carrier (or reproductive partner of an affected/carrier person) AND results will affect reproductive decisions; OR (c) prenatal testing when both biological parents have confirmed CSTB mutations.; Versiti aHUS genetic evaluation panel: medically necessary for diagnosis of atypical hemolytic uremic syndrome (aHUS).; Versiti autosomal dominant thrombocytopenia panel: medically necessary when (a) family history consistent with dominantly inherited thrombocytopenia AND single-gene/targeted testing for that variant was performed and negative; OR (b) the clinical presentation does NOT fit a well-described syndrome amenable to single-gene/targeted testing; AND acquired/nongenetic causes are considered/ruled out (environmental exposure, infection).; Versiti congenital neutropenia panel: medically necessary to confirm severe congenital neutropenia when BOTH the clinical presentation is consistent with SCN (recurrent infections/fevers, absolute neutrophil count <500/microL) AND testing informs prognosis and treatment selection.; Von Hippel-Lindau disease (VHL): medically necessary when EITHER (a) the individual has a first/second-degree relative with a known/suspected deleterious VHL mutation (test for the specific familial mutation); OR (b) the individual has a personal history of >=1 of (clear cell renal cell carcinoma; endolymphatic sac tumor; epididymal/adnexal papillary cystadenoma; hemangioblastoma; multiple renal and/or pancreatic cysts; pancreatic neuroendocrine tumors; pancreatic serous cystadenomas; pheochromocytoma/paraganglioma; retinal angioma). Strategy: VHL sequence analysis first, then deletion/duplication analysis if negative.; Von Willebrand disease (VWD): targeted genetic testing is medically necessary to (a) diagnose type 2B VWD for individuals suspected of type 2A or 2B needing additional testing; or (b) for suspected type 2N VWD requiring additional testing.; Whole exome/genome sequencing (WES/WGS) for unexplained congenital/neurodevelopmental disorder: medically necessary when ALL - (1) a genetic etiology is most likely based on ANY of (multiple congenital abnormalities affecting unrelated organ systems; bilateral sensorineural hearing loss with negative/inconclusive targeted panel; autism spectrum disorder with syndromic features where CGH/targeted panel does not explain it; intractable/early-onset epilepsy meeting all of [>=2 unprovoked seizures >24h apart, unexplained etiology, age <=21, prior >=20-gene epilepsy panel not done or non-diagnostic, no prior WES/WGS]; OR TWO of [structural/functional abnormality of >=1 organ system; global developmental delay/ID/complex neurodevelopmental symptoms or severe neuropsychiatric condition; family history strongly suggestive incl. consanguinity; unexplained developmental regression; biochemical findings suggestive of inborn error of metabolism]); (2) a Board-Certified/Board-Eligible Medical Geneticist has evaluated/consulted (EXCEPTION: for GDD/ID, a neurologist or experienced developmental pediatrician may substitute if a geneticist is unavailable); (3) pre- and post-test counseling by an appropriate independent provider (not a genetics-lab employee), e.g., an ABMG/ABGC-certified Genetic Counselor or a GNCC/ANCC-credentialed Advanced Practice Nurse in Genetics; (4) alternate etiologies considered/ruled out; (5) the presentation does NOT fit a well-described single-gene/targeted-panel syndrome; (6) WES/WGS is more efficient than separate tests given high genetic heterogeneity; (7) diagnosis cannot be made by standard clinical workup (excluding invasive procedures such as muscle biopsy); and (8) the test is predicted to impact health outcomes (guiding prognosis/decision-making, reducing diagnostic uncertainty, or informing pregnancy planning/recurrence risk).; WES/WGS family trio testing of biologic parents/sibling of an affected child is medically necessary when the criteria for the child's WES/WGS are met. WES/WGS data re-analysis is medically necessary when the above medical-necessity criteria are met at the time re-analysis is considered.; Rapid genome/exome sequencing (rGS): medically necessary for acutely-ill members <=21 years when all WES/WGS medical-necessity criteria are met.; Fetal exome/genome sequencing (via amniocentesis/CVS/PUBS): medically necessary when ALL - the fetus is affected with non-immune hydrops fetalis; current-pregnancy karyotype and/or microarray was performed with uninformative results; AND alternate etiologies considered/ruled out (environmental exposure, injury, infection, maternal condition).; Repeat germline genetic testing: medically necessary if the existing result is inconsistent with the individual's clinical presentation, OR the test methodology has changed and may yield a different result impacting management.. Applies to 28 codes: 81161, 81162, 81163, 81164, 81165, 81166, 81167, 81187, 81206, 81207, 81208, 81210, 81225, 81226, 81235, 81240, 81241, 81243, 81244, 81256, 81257, 81301, 81415, 81416, 81417, 81425, 81426, 81427. Confirm prior-authorization status with Aetna before scheduling — it is code- and plan-specific, and this policy is not an exact authorization source. Documentation: For genetic testing of a non-Aetna member: a copy of the denial letter from the non-Aetna member's own benefit plan must be submitted (testing is only covered when the non-member's plan will not cover the test).; Aetna may request a certificate of coverage when: the denial letter fails to specify the basis for non-coverage, the denial is based on a plan exclusion, or the genetic test was denied as not medically necessary without a clear explanation of the lack of medical benefit.; For WES/WGS: documentation of evaluation/consultation by a Board-Certified or Board-Eligible Medical Geneticist (or, for global developmental delay/intellectual disability, a neurologist or experienced developmental pediatrician if a geneticist is unavailable), and documentation of pre- and post-test counseling by an appropriate independent provider (e.g., ABMG/ABGC-certified Genetic Counselor or GNCC/ANCC-credentialed Advanced Practice Nurse in Genetics). Policy exclusions and limitations: Repeat carrier screening: experimental/investigational/unproven.; Targeted carrier screening: NOT medically necessary for any indication other than a known familial mutation or a specific condition based on family history.; Cystic fibrosis screening beyond the standard 25-mutation ACMG CFTR panel (or full sequencing outside the listed indications): experimental/investigational/unproven.; Fragile X population-based screening of individuals not in the listed risk categories: experimental/investigational/unproven.; Hereditary hemochromatosis general-population screening: experimental/investigational/unproven.; Spinal muscular atrophy general-population SMN1 deletion screening: experimental/investigational/unproven.; Unverricht-Lundborg disease (EPM1) general-population CSTB carrier screening: experimental/investigational/unproven.; Corneal dystrophy TGFBI general-population screening: experimental/investigational/unproven.; Ehlers-Danlos syndrome - other types, deletion/duplication analysis, and general-population screening: experimental/investigational/unproven. Specifically excluded EDS subtypes: arthrochalasia type (COL1A1, COL1A2); dermatosparaxis type (ADAMTS2); hypermobility type (TNXB); kyphoscoliotic type (PLOD1); classic type (COL5A1, COL5A2).; GNE and VCP genetic testing for Ehlers-Danlos syndrome and osteogenesis imperfecta: experimental/investigational/unproven.; Marfan syndrome - other indications (minor features only; TGFBR1/TGFBR2 testing for Marfan; individuals already meeting Ghent criteria when not used for reproductive decisions): experimental/investigational/unproven.; Myotonic dystrophy type 2 - CNBP sequence analysis: experimental/investigational/unproven.; Osteogenesis imperfecta - diagnostic confirmation when clinical/radiological exam and family history are already adequate, and other circumstances: experimental/investigational/unproven.; Familial nephrotic syndrome - screening of other nephrotic persons and steroid-responsive cases: experimental/investigational/unproven.; Non-invasive prenatal diagnosis of sickle cell disease via cfDNA: experimental/investigational/unproven (not recommended by ACOG).; Whole genome sequencing (WGS) after a non-diagnostic whole exome sequencing (WES): NOT medically necessary absent specific information regarding knowledge advances or WGS value for the specific presentation (diagnostic yield considered negligible).; Rapid genome/exome sequencing (rGS): NOT medically necessary for isolated transient neonatal tachypnea; isolated unconjugated hyperbilirubinemia; isolated hypoxic-ischemic encephalopathy with a clear precipitating event; isolated meconium aspiration; isolated prematurity; or infection/sepsis with normal response to therapy.; WES/WGS - NOT medically necessary if a prior targeted epilepsy panel already identified a pathogenic/likely pathogenic variant sufficient to explain the presentation.; Fetal exome/genome sequencing for all indications other than non-immune hydrops fetalis with uninformative karyotype/microarray (including general pregnancy evaluation or terminated fetus): experimental/investigational/unproven.; Age-related macular degeneration testing (e.g., Macula Risk, AMDiGuard, RetnaGene): experimental/investigational/unproven.; Brugada syndrome (SCN5A gene analysis): experimental/investigational/unproven.; Choroidal neovascularization (RetnaGene): experimental/investigational/unproven.; Congenital stationary night blindness panels (e.g., CACNA1F, NYX, TRPM1): experimental/investigational/unproven.; Coronary artery disease genetic testing (except familial hypercholesterolemia): experimental/investigational/unproven.; Costello syndrome (HRAS gene): experimental/investigational/unproven.; Diamond-Blackfan anemia genetic testing: experimental/investigational/unproven.; Epidermolytic hyperkeratosis genetic testing: experimental/investigational/unproven.; Essential tremor genetic testing (e.g., PGmax Movement Disorders Panel): experimental/investigational/unproven.; Facioscapulohumeral muscular dystrophy (FSHD) genetic testing: experimental/investigational/unproven.; Familial Alzheimer disease genetic testing (multiple panels): experimental/investigational/unproven.; Familial amyotrophic lateral sclerosis (C9orf72, FUS, TARDBP mutations; SOD1 addressed in CPB 0715): experimental/investigational/unproven.; Familial cold urticaria / familial cold autoinflammatory syndrome genetic testing: experimental/investigational/unproven.; Familial partial lipodystrophy (FPLD2) genetic testing: experimental/investigational/unproven.; Frizzled class receptor 6 (FZD6) gene sequencing for nail dystrophy: experimental/investigational/unproven.; CLCN1 genetic testing for congenital myotonia: experimental/investigational/unproven.; Interstitial lung disease genetic testing in adults (multiple panels): experimental/investigational/unproven.; Titin (TTN) gene testing for familial dilated cardiomyopathy: experimental/investigational/unproven.; Genetic testing panels for colon cancer syndromes (as panels): experimental/investigational/unproven.; Genetic testing panels (except CGH) for autism/pervasive developmental disorders (except the medically-necessary indications listed in policy): experimental/investigational/unproven.; Genetic testing panels for X-linked intellectual disability: experimental/investigational/unproven.; Glioblastoma multiforme genetic testing: experimental/investigational/unproven.; Glomerulopathy Gene Set: experimental/investigational/unproven.; HADHB testing for breast cancer: experimental/investigational/unproven.; Hemiplegic migraine genetic testing: experimental/investigational/unproven.; Hemophilia C (F11 / Factor XI) genetic testing: experimental/investigational/unproven.; Heterotaxy genetic testing: experimental/investigational/unproven.; Klippel-Feil syndrome genetic testing: experimental/investigational/unproven.; Lactose intolerance genetic testing: experimental/investigational/unproven.; Malignant melanoma (CDKN2A/p16) genetic testing (e.g., Melaris): experimental/investigational/unproven.; May-Hegglin anomaly genetic testing: experimental/investigational/unproven.; McCune-Albright syndrome genetic testing: experimental/investigational/unproven.; Mowat-Wilson syndrome (ZEB2 gene) genetic testing: experimental/investigational/unproven.; MTHFR testing for essential hypertension: experimental/investigational/unproven.; Multiple mitochondrial respiratory chain complex deficiencies genetic testing: experimental/investigational/unproven.; Myoclonus-dystonia (epsilon-sarcoglycan/SGCE deletion analysis): experimental/investigational/unproven.; Migrainous vertigo genetic testing: experimental/investigational/unproven.; Narcolepsy (HLA-DQB1*06:02 testing): experimental/investigational/unproven.; Next-generation sequencing for diagnosis of learning disabilities in children: experimental/investigational/unproven.; Osteoporosis (isolated, non-syndromic) genetic testing (multiple panels): experimental/investigational/unproven.; Parkinson disease genetic testing (multiple panels): experimental/investigational/unproven.; Polycystic liver disease genetic testing: experimental/investigational/unproven.; Seizure disorders genetic testing (except the identified medically-necessary indications), e.g., creatine transporter 1 sequencing of parents, GABRG2 for infantile febrile seizures, GEFS+: experimental/investigational/unproven.; Short Multiply Aggregated Sequence Homologies (SMASH): experimental/investigational/unproven.; Sleep-walking testing (HLA-DQB1*05:01 typing; Circadian/Complex Sleep Disorders Panel): experimental/investigational/unproven.; Townes-Brocks syndrome (SALL1 gene): experimental/investigational/unproven.; Type 2 diabetes genetic testing (except MODY) (multiple panels): experimental/investigational/unproven.; Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) genetic testing: experimental/investigational/unproven.; Von Willebrand factor gene testing (except the type 2B/2N additional-testing indications): experimental/investigational/unproven.; deCODE tests (AF, BreastCancer, Glaucoma, MI, PrCa, T2): experimental/investigational/unproven.; Epigenetic methylation assay (EpiSign): experimental/investigational/unproven.; EpiSEEK test for epilepsy/seizures: experimental/investigational/unproven.; Genetic Addiction Risk Score (GARSPREDX): experimental/investigational/unproven.; GeneticsNow Comprehensive: experimental/investigational/unproven.; Home genetic tests: experimental/investigational/unproven.; Lifetime Genomics Risk Assessment for VTE: experimental/investigational/unproven.; MTHFR genetic testing for hereditary thrombophilia risk: experimental/investigational/unproven.; Multigene panels (except the medically-necessary indications), e.g., CancerNext Expanded, Coloseq, Invitae Melanoma Panel, Invitae Melanoma-Pancreatic Cancer Panel, Invitae Thyroid Cancer Panel, MelanomaNext, MyPhenome Hungry Gut, ProstateNow: experimental/investigational/unproven.; Nuclear encoded mitochondrial genomic sequencing panel: experimental/investigational/unproven.; Optical genome mapping for cancer/genetic diseases: experimental/investigational/unproven.; OtoSCOPE Genetic Hearing Loss Panel: experimental/investigational/unproven.; Plasminogen activator inhibitor-1 (PAI-1) testing for inherited thrombophilia: experimental/investigational/unproven.; POLG1 testing for mitochondrial recessive ataxia syndrome: experimental/investigational/unproven.; PROSTOX ultra: experimental/investigational/unproven.; Septo-optic Dysplasia Spectrum Sequencing Panel: experimental/investigational/unproven.; Single nucleotide polymorphism testing for breast cancer (OncoVue, BREVAGen): experimental/investigational/unproven.; SLCO1B1 testing for statin-induced myopathy: experimental/investigational/unproven.; SLIT1 testing for Asperger syndrome: experimental/investigational/unproven.; Versiti panels (various, including Coagulation Disorders, Comprehensive Bleeding Disorder, Comprehensive Platelet Disorder, Fibrinolytic Disorder, Inherited Thrombocytopenia, Platelet Function Disorder, Red Cell Genotyping, Thrombosis): experimental/investigational/unproven.; Whole mitochondrial genome sequencing: experimental/investigational/unproven.; Whole transcriptome sequencing for unexplained constitutional/heritable disorders/syndromes: experimental/investigational/unproven.; APC mRNA sequence analysis (CustomNext + RNA, Ambry Genetics): experimental/investigational/unproven.; Factor V HR2 allele DNA mutation analysis: experimental/investigational/unproven.; Factor V Leiden HR2 / Factor V HR2 allele and central core disease (CCD) genetic testing: experimental/investigational/unproven.; SF3B2 testing for hemifacial microsomia evaluation: NOT medically necessary unless identifying the mutation in an affected child enables testing a parent to determine recurrence risk in future children.; Genetic testing of a non-Aetna member: excluded unless ALL of - the information is needed to adequately assess risk in the Aetna member, the information will be used in the Aetna member's immediate care plan, AND the non-Aetna member's benefit plan (if any) will not cover the test (a copy of the denial letter is required). Claims may be denied when the requested service falls under these. Some of these are conditional (note the stated exceptions) — confirm specifics against the bulletin.
Does Aetna require prior authorization for Genetic Testing?
Confirm prior-authorization status with Aetna before scheduling — it is code- and plan-specific, and this policy is not an exact authorization source. Documentation: For genetic testing of a non-Aetna member: a copy of the denial letter from the non-Aetna member's own benefit plan must be submitted (testing is only covered when the non-member's plan will not cover the test).; Aetna may request a certificate of coverage when: the denial letter fails to specify the basis for non-coverage, the denial is based on a plan exclusion, or the genetic test was denied as not medically necessary without a clear explanation of the lack of medical benefit.; For WES/WGS: documentation of evaluation/consultation by a Board-Certified or Board-Eligible Medical Geneticist (or, for global developmental delay/intellectual disability, a neurologist or experienced developmental pediatrician if a geneticist is unavailable), and documentation of pre- and post-test counseling by an appropriate independent provider (e.g., ABMG/ABGC-certified Genetic Counselor or GNCC/ANCC-credentialed Advanced Practice Nurse in Genetics).
What does Aetna exclude for Genetic Testing?
Policy exclusions and limitations: Repeat carrier screening: experimental/investigational/unproven.; Targeted carrier screening: NOT medically necessary for any indication other than a known familial mutation or a specific condition based on family history.; Cystic fibrosis screening beyond the standard 25-mutation ACMG CFTR panel (or full sequencing outside the listed indications): experimental/investigational/unproven.; Fragile X population-based screening of individuals not in the listed risk categories: experimental/investigational/unproven.; Hereditary hemochromatosis general-population screening: experimental/investigational/unproven.; Spinal muscular atrophy general-population SMN1 deletion screening: experimental/investigational/unproven.; Unverricht-Lundborg disease (EPM1) general-population CSTB carrier screening: experimental/investigational/unproven.; Corneal dystrophy TGFBI general-population screening: experimental/investigational/unproven.; Ehlers-Danlos syndrome - other types, deletion/duplication analysis, and general-population screening: experimental/investigational/unproven. Specifically excluded EDS subtypes: arthrochalasia type (COL1A1, COL1A2); dermatosparaxis type (ADAMTS2); hypermobility type (TNXB); kyphoscoliotic type (PLOD1); classic type (COL5A1, COL5A2).; GNE and VCP genetic testing for Ehlers-Danlos syndrome and osteogenesis imperfecta: experimental/investigational/unproven.; Marfan syndrome - other indications (minor features only; TGFBR1/TGFBR2 testing for Marfan; individuals already meeting Ghent criteria when not used for reproductive decisions): experimental/investigational/unproven.; Myotonic dystrophy type 2 - CNBP sequence analysis: experimental/investigational/unproven.; Osteogenesis imperfecta - diagnostic confirmation when clinical/radiological exam and family history are already adequate, and other circumstances: experimental/investigational/unproven.; Familial nephrotic syndrome - screening of other nephrotic persons and steroid-responsive cases: experimental/investigational/unproven.; Non-invasive prenatal diagnosis of sickle cell disease via cfDNA: experimental/investigational/unproven (not recommended by ACOG).; Whole genome sequencing (WGS) after a non-diagnostic whole exome sequencing (WES): NOT medically necessary absent specific information regarding knowledge advances or WGS value for the specific presentation (diagnostic yield considered negligible).; Rapid genome/exome sequencing (rGS): NOT medically necessary for isolated transient neonatal tachypnea; isolated unconjugated hyperbilirubinemia; isolated hypoxic-ischemic encephalopathy with a clear precipitating event; isolated meconium aspiration; isolated prematurity; or infection/sepsis with normal response to therapy.; WES/WGS - NOT medically necessary if a prior targeted epilepsy panel already identified a pathogenic/likely pathogenic variant sufficient to explain the presentation.; Fetal exome/genome sequencing for all indications other than non-immune hydrops fetalis with uninformative karyotype/microarray (including general pregnancy evaluation or terminated fetus): experimental/investigational/unproven.; Age-related macular degeneration testing (e.g., Macula Risk, AMDiGuard, RetnaGene): experimental/investigational/unproven.; Brugada syndrome (SCN5A gene analysis): experimental/investigational/unproven.; Choroidal neovascularization (RetnaGene): experimental/investigational/unproven.; Congenital stationary night blindness panels (e.g., CACNA1F, NYX, TRPM1): experimental/investigational/unproven.; Coronary artery disease genetic testing (except familial hypercholesterolemia): experimental/investigational/unproven.; Costello syndrome (HRAS gene): experimental/investigational/unproven.; Diamond-Blackfan anemia genetic testing: experimental/investigational/unproven.; Epidermolytic hyperkeratosis genetic testing: experimental/investigational/unproven.; Essential tremor genetic testing (e.g., PGmax Movement Disorders Panel): experimental/investigational/unproven.; Facioscapulohumeral muscular dystrophy (FSHD) genetic testing: experimental/investigational/unproven.; Familial Alzheimer disease genetic testing (multiple panels): experimental/investigational/unproven.; Familial amyotrophic lateral sclerosis (C9orf72, FUS, TARDBP mutations; SOD1 addressed in CPB 0715): experimental/investigational/unproven.; Familial cold urticaria / familial cold autoinflammatory syndrome genetic testing: experimental/investigational/unproven.; Familial partial lipodystrophy (FPLD2) genetic testing: experimental/investigational/unproven.; Frizzled class receptor 6 (FZD6) gene sequencing for nail dystrophy: experimental/investigational/unproven.; CLCN1 genetic testing for congenital myotonia: experimental/investigational/unproven.; Interstitial lung disease genetic testing in adults (multiple panels): experimental/investigational/unproven.; Titin (TTN) gene testing for familial dilated cardiomyopathy: experimental/investigational/unproven.; Genetic testing panels for colon cancer syndromes (as panels): experimental/investigational/unproven.; Genetic testing panels (except CGH) for autism/pervasive developmental disorders (except the medically-necessary indications listed in policy): experimental/investigational/unproven.; Genetic testing panels for X-linked intellectual disability: experimental/investigational/unproven.; Glioblastoma multiforme genetic testing: experimental/investigational/unproven.; Glomerulopathy Gene Set: experimental/investigational/unproven.; HADHB testing for breast cancer: experimental/investigational/unproven.; Hemiplegic migraine genetic testing: experimental/investigational/unproven.; Hemophilia C (F11 / Factor XI) genetic testing: experimental/investigational/unproven.; Heterotaxy genetic testing: experimental/investigational/unproven.; Klippel-Feil syndrome genetic testing: experimental/investigational/unproven.; Lactose intolerance genetic testing: experimental/investigational/unproven.; Malignant melanoma (CDKN2A/p16) genetic testing (e.g., Melaris): experimental/investigational/unproven.; May-Hegglin anomaly genetic testing: experimental/investigational/unproven.; McCune-Albright syndrome genetic testing: experimental/investigational/unproven.; Mowat-Wilson syndrome (ZEB2 gene) genetic testing: experimental/investigational/unproven.; MTHFR testing for essential hypertension: experimental/investigational/unproven.; Multiple mitochondrial respiratory chain complex deficiencies genetic testing: experimental/investigational/unproven.; Myoclonus-dystonia (epsilon-sarcoglycan/SGCE deletion analysis): experimental/investigational/unproven.; Migrainous vertigo genetic testing: experimental/investigational/unproven.; Narcolepsy (HLA-DQB1*06:02 testing): experimental/investigational/unproven.; Next-generation sequencing for diagnosis of learning disabilities in children: experimental/investigational/unproven.; Osteoporosis (isolated, non-syndromic) genetic testing (multiple panels): experimental/investigational/unproven.; Parkinson disease genetic testing (multiple panels): experimental/investigational/unproven.; Polycystic liver disease genetic testing: experimental/investigational/unproven.; Seizure disorders genetic testing (except the identified medically-necessary indications), e.g., creatine transporter 1 sequencing of parents, GABRG2 for infantile febrile seizures, GEFS+: experimental/investigational/unproven.; Short Multiply Aggregated Sequence Homologies (SMASH): experimental/investigational/unproven.; Sleep-walking testing (HLA-DQB1*05:01 typing; Circadian/Complex Sleep Disorders Panel): experimental/investigational/unproven.; Townes-Brocks syndrome (SALL1 gene): experimental/investigational/unproven.; Type 2 diabetes genetic testing (except MODY) (multiple panels): experimental/investigational/unproven.; Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) genetic testing: experimental/investigational/unproven.; Von Willebrand factor gene testing (except the type 2B/2N additional-testing indications): experimental/investigational/unproven.; deCODE tests (AF, BreastCancer, Glaucoma, MI, PrCa, T2): experimental/investigational/unproven.; Epigenetic methylation assay (EpiSign): experimental/investigational/unproven.; EpiSEEK test for epilepsy/seizures: experimental/investigational/unproven.; Genetic Addiction Risk Score (GARSPREDX): experimental/investigational/unproven.; GeneticsNow Comprehensive: experimental/investigational/unproven.; Home genetic tests: experimental/investigational/unproven.; Lifetime Genomics Risk Assessment for VTE: experimental/investigational/unproven.; MTHFR genetic testing for hereditary thrombophilia risk: experimental/investigational/unproven.; Multigene panels (except the medically-necessary indications), e.g., CancerNext Expanded, Coloseq, Invitae Melanoma Panel, Invitae Melanoma-Pancreatic Cancer Panel, Invitae Thyroid Cancer Panel, MelanomaNext, MyPhenome Hungry Gut, ProstateNow: experimental/investigational/unproven.; Nuclear encoded mitochondrial genomic sequencing panel: experimental/investigational/unproven.; Optical genome mapping for cancer/genetic diseases: experimental/investigational/unproven.; OtoSCOPE Genetic Hearing Loss Panel: experimental/investigational/unproven.; Plasminogen activator inhibitor-1 (PAI-1) testing for inherited thrombophilia: experimental/investigational/unproven.; POLG1 testing for mitochondrial recessive ataxia syndrome: experimental/investigational/unproven.; PROSTOX ultra: experimental/investigational/unproven.; Septo-optic Dysplasia Spectrum Sequencing Panel: experimental/investigational/unproven.; Single nucleotide polymorphism testing for breast cancer (OncoVue, BREVAGen): experimental/investigational/unproven.; SLCO1B1 testing for statin-induced myopathy: experimental/investigational/unproven.; SLIT1 testing for Asperger syndrome: experimental/investigational/unproven.; Versiti panels (various, including Coagulation Disorders, Comprehensive Bleeding Disorder, Comprehensive Platelet Disorder, Fibrinolytic Disorder, Inherited Thrombocytopenia, Platelet Function Disorder, Red Cell Genotyping, Thrombosis): experimental/investigational/unproven.; Whole mitochondrial genome sequencing: experimental/investigational/unproven.; Whole transcriptome sequencing for unexplained constitutional/heritable disorders/syndromes: experimental/investigational/unproven.; APC mRNA sequence analysis (CustomNext + RNA, Ambry Genetics): experimental/investigational/unproven.; Factor V HR2 allele DNA mutation analysis: experimental/investigational/unproven.; Factor V Leiden HR2 / Factor V HR2 allele and central core disease (CCD) genetic testing: experimental/investigational/unproven.; SF3B2 testing for hemifacial microsomia evaluation: NOT medically necessary unless identifying the mutation in an affected child enables testing a parent to determine recurrence risk in future children.; Genetic testing of a non-Aetna member: excluded unless ALL of - the information is needed to adequately assess risk in the Aetna member, the information will be used in the Aetna member's immediate care plan, AND the non-Aetna member's benefit plan (if any) will not cover the test (a copy of the denial letter is required). Claims may be denied when the requested service falls under these. Some of these are conditional (note the stated exceptions) — confirm specifics against the bulletin.

Source

Aetna CPB 0140 — Genetic Testing

Related

Need this Aetna approval drafted?

Ask D3 builds the documentation checklist and a ready-to-send request from this policy's criteria — cited, free, no signup.

Ask D3 Free

Coverage disclaimer

This page summarizes Aetna clinical-coverage criteria extracted from policy CPB 0140 for educational purposes. Coverage policies change and vary by individual plan. Always verify against Aetna's current policy before performing a procedure or submitting a claim. d3rx is not responsible for claim denials or reimbursement issues.