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Genetic Testing - Medical Clinical Policy Bulletins. Number: 0. 14. 0Policy. 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. After history, physical examination, pedigree analysis, genetic counseling, and completion of conventional diagnostic studies, a definitive diagnosis remains uncertain, and one of the following diagnoses is suspected (this list is not all- inclusive): Achondroplasia (FGFR3)Albinism. Alpha- 1 antitrypsin deficiency (SERPINA1)Alpha thalassemia/Hb Bart hydrops fetalis syndrome/Hb. H disease** (HBA1/HBA2, alpha globin 1 and alpha globulin 2)Angelman syndrome (GABRA, SNRPNBardet- Biedl syndrome. Beta thalassemia** (beta globin)Bloom syndrome (BLM)CADASIL (see below)Canavan disease (ASPA  (aspartoacylase A))Charcot- Marie Tooth disease (PMP- 2.

Classical lissencephaly. Congenital adrenal hyperplasia/2. CYP2. 1A2)*Congenital amegakaryocytic thrombocytopenia. Congenital central hypoventilation syndrome (PHOX2. B)Congenital muscular dystrophytype 1. C (MDC1. C) (FKRP (Fukutin related protein))Crouzon syndrome (FGFR2, FGFR3)Cystic fibrosis (CFTR) (see below)Dentatorubral- pallidoluysian atrophy. Duchenne/Becker muscular dystrophy (dystrophin)Dysferlin myopathy.

Ehlers- Danlos syndrome. Emery- Dreifuss muscular dystrophy (EDMD1, 2, and 3)Fabry disease. Factor V Leiden mutation (F5 (Factor V))Factor XIII deficiency, congenital (F1. 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)Fragile X syndrome, FRAXA (FMR1) (see below)Friedreich's ataxia (FRDA (frataxin))Galactosemia (GALT)Gaucher disease (GBA (acid beta glucosidase))Gitelman's syndrome. Hemoglobin 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- 2. Connexin- 3. 2 ))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 (SPG3. Watch Borderline Online Etonline. A) and 4 (SPG4, SPAST) Huntington's disease (HTT, HD (Huntington))Hypochondroplasia (FGFR3)Hypertrophic cardiomyopathy (see below)Jackson- Weiss syndrome (FGFR2)Joubert syndrome. 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)Marfan’s syndrome (TGFBR1, TGFBR2)Mc. Ardle's disease. Medium chain acyl co. A dehydrogenase deficiency (ACADM)Medullary thyroid carcinoma.

MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke- like episodes) (MTTL1, t. RNAleu)Meckel- Gruber syndrome.

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 (t. RNAlys))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. Nephronophthisis. Phenylketonuria (PAH)Pfeiffer syndrome (FGFR1)Prader- Willi- Angelman syndrome (SNRPN, GABRA5, NIPA1, UBE3. A, ANCR, GABRA )Primary dystonia (TOR1. A (DYT1))Prothrombin (F2 (Factor II, 2.

G> 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 (CACNA1. A), 7, 8, 1. 0, 1. DRPLA) Tay- Sachs disease (HEXA (hexosaminidase A))Thanatophoric dysplasia (FGFR3)Von Gierke disease (G6. PC, Glycogen storage disease, Type 1a)Von Hippel- Lindau syndrome (VHL)Walker- Warburg syndrome (POMGNT1)2. DCGR  (CATCH- 2. 2))* 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: The information is needed to adequately assess risk in the Aetna member; and. The information will be used in the immediate care plan of the Aetna member; and. Watch Man Of The Year Online Gorillavid on this page. The non- Aetna member's benefit plan, if any, will not cover the test (a copy of the denial letter*** from the non- Aetna member's benefit plan must be provided).*** Aetna may also request a copy of the certificate of coverage from the non- member's health insurance plan if: (i) the denial letter from the non- member's insurance carrier fails to specify the basis for non- coverage; (ii) the denial is based on a specific plan exclusion; or (iii) the genetic test is denied by the non- member's insurance carrier as not medically necessary and the medical information provided to Aetna does not make clear why testing would not be of significant medical benefit to the non- member. Medical Necessity Criteria for Specific Genetic Tests: Adenosis polyposis coli (APC): Aetna considers adenosis polyposis coli (APC) genetic testing medically necessary for either of the following indications: Members with greater than 1. Members with a desmoid tumor, hepatoblastoma, or cribriform- morular variant of papillary thyroid cancer; or. Members with 1st- degree relatives (i.

FAP) or with a documented APC mutation. The specific APC mutation should be identified in the affected 1st- degree relative with FAP prior to testing the member, if feasible. Full sequence APC genetic testing is considered medically necessary only when it is not possible to determine the family mutation first. Aetna considers APC genetic testing experimental and investigational for all other indications because its effectiveness for indications other than the ones listed above has not been established.