Clinical Policy Bulletin: Genetic Testing

Aetna considers genetic testing medically necessary to establish a molecular diagnosis of an inheritable disease when all of the following are met:

The member displays clinical features, or is at direct risk of inheriting the mutation in question (pre-symptomatic); and

The result of the test will directly impact the treatment being delivered to the member; and

Achondroplasia (FGFR3) Albinism Alpha-1 antitrypsin deficiency (SERPINA1) Alpha thalassemia/Hb Bart hydrops fetalis syndrome/HbH disease** (HBA1/HBA2, alpha globin 1 and alpha globulin 2) Angelman syndrome (GABRA, SNRPN Beta thalassemia** (beta globin) Bloom syndrome (BLM) CADASIL (see below) Canavan disease (ASPA (aspartoacylase A)) Charcot-Marie Tooth disease (PMP-22) Classical lissencephaly Congenital adrenal hyperplasia/21 hydroxylase deficiency (CYP21A2)* Congenital amegakaryocytic thrombocytopenia Congenital central hypoventilation syndrome (PHOX2B) Congenital muscular dystrophy type 1C (MDC1C) (FKRP (Fukutin related protein)) Crouzon syndrome (FGFR2, FGFR3) Cystic fibrosis (CFTR) (see below) Dentatorubral-pallidoluysian atrophy Duchenne/Becker muscular dystrophy (dystrophin) Dysferlin myopathyEhlers-Danlos syndrome Emery-Dreifuss muscular dystrophy (EDMD1, 2, and 3) Fabry disease Factor V Leiden mutation (F5 (Factor V)) Factor XIII deficiency, congenital (F13 (Factor XIII beta globulin)) Familial adenomatous polyposis coli (APC) (see below) Familial dysautonomia (IKBKAP) Familial hypocalciuric hypercalcemia (see below)Familial Mediterranean fever (MEFV) Fanconi anemia (FANCC, FANCD) Facioscapulohumeral muscular dystrophy (FSHMD1A) Fragile X syndrome, FRAXA (FMR1) (see below) Friedreich's ataxia (FRDA (frataxin)) Galactosemia (GALT) Gaucher disease (GBA (acid beta glucosidase)) Gitelman's syndromeHemoglobin E thalassemia ** Hemoglobin S and/or C ** Hemophilia A/VWF (F8 ( Factor VIII)) Hemophilia B (F9 (Factor IX)) Hereditary amyloidosis (TTR variants) Hereditary deafness (GJB2 (Connexin-26, Connexin-32 )) Hereditary hemorrhagic telangiectasia (HHT) Hereditary hemochromatosis (HFE) (see below) Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome (fumarate hydratase (FH) gene) Hereditary neuropathy with liability to pressure palsies (HNPP) Hereditary non-polyposis colorectal cancer (HNPCC) (MLH1, MSH2, MSH6. MSI) ( see below) Hereditary pancreatitis (PRSS1) (see below) Hereditary paraganglioma (SDHD, SDHB)

Hereditary polyposis coli (APC) Hereditary spastic paraplegia 3 (SPG3A) and 4 (SPG4, SPAST) Huntington's disease (HTT, HD(Huntington)) Hypochondroplasia (FGFR3) Hypertrophic cardiomyopathy (see below) Jackson-Weiss syndrome (FGFR2)Kallmann syndrome (FGFR1) Kennedy disease (SBMA) Leber hereditary optic neuropathy (LHON) Leigh Syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) Long QT syndrome (see below) Limb girdle muscular dystrophy (LGMD1, LGMD2) (FKRP (Fukutin related protein)) Malignant hyperthermia (RYR1) Maple syrup urine disease (branched-chain keto acid dehydrogenase E1) Marfans syndrome (TGFBR1, TGFBR2) McArdle's diseaseMedium chain acyl coA dehydrogenase deficiency (ACADM) Medullary thyroid carcinoma MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) (MTTL1, tRNAleu) Mucolipidosis type IV (MCOLN1, mucolipin 1) Mucopolysaccharidoses type 1 (MPS-1) Muenke syndrome (FGFR3) Multiple endocrine neoplasia type 1 Muscle-Eye-Brain disease (POMGNT1) MYH-associated polyposis (MYH) (see below) Myoclonic epilepsy (MERRF) (MTTK (tRNAlys)) Myotonic dystrophy (DMPK, ZNF-9) Neimann-Pick disease, type A(SMPD1, sphingomyelin phosphodiesterase) Nephrotic syndrome, congenital (NPHS1, NPHS2) Neurofibromatosis type 1 (NF1, neurofibromin) Neurofibromatosis type 2 (Merlin) Neutropenia, congenital cyclic Phenylketonuria (PAH) Pfeiffer syndrome (FGFR1) Prader-Willi-Angelman syndrome (SNRPN, GABRA5, NIPA1, UBE3A, ANCR, GABRA ) Primary dystonia (TOR1A (DYT1)) Prothrombin (F2 (Factor II,20210G> A mutation)) Pyruvate kinase deficiency (PKD) Retinoblastoma (Rh) Rett syndrome (FOXG1, MECP2) Saethre-Chotzen syndrome (TWIST, FGFR2) SHOX-related short stature (see below) Smith-Lemli-Opitz syndrome Spinal muscular atrophy (SMN1, SMN2 ) Spinocerebellar ataxia (SCA types 1, 2, 3 (MJD), 6 (CACNA1A), 7, 8, 10, 17 and DRPLA) Tay-Sachs disease (HEXA (hexosaminidase A)) Thanatophoric dysplasia (FGFR3) Von Gierke disease (G6PC, Glycogen storage disease, Type 1a) Von Hippel-Lindau syndrome (VHL) Walker-Warburg syndrome (POMGNT1) 22q11 deletion syndromes (DCGR (CATCH-22))

* Medically necessary if results of the adrenocortical profile following cosyntropin stimulation test are equivocal or for purposes of genetic counseling.

** Electrophoresis is the appropriate initial laboratory test for individuals judged to be at-risk for a hemoglobin disorder.

In the absence of specific information regarding advances in the knowledge of mutation characteristics for a particular disorder, the current literature indicates that genetic tests for inherited disease need only be conducted once per lifetime of the member.

Note: Genetic testing of Aetna members is excluded from coverage under Aetna's benefit plans if the testing is performed primarily for the medical management of other family members who are not covered under an Aetna benefit plan. In these circumstances, the insurance carrier for the family members who are not covered by Aetna should be contacted regarding coverage of genetic testing. Occasionally, genetic testing of tissue samples from other family members who are not covered by Aetna may be required to provide the medical information necessary for the proper medical care of an Aetna member. Aetna covers genetic testing for heritable disorders in non-Aetna members when all of the following conditions are met:

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