Genetic Molecular Testing for Miscellaneous Indications* Printer-Friendly Version   

Medical Policy: 02.04.08 
Original Effective Date: May 2005 
Reviewed: July 2008 
Revised: July 2008 

This policy applies to all products unless specific contract limitations, exclusions or exceptions apply. Please refer to the member's coverage manual for benefit availability. Managed care guidelines related to referral authorization, and precertification of inpatient hospitalization, home health, home infusion and hospice services apply.

Description: 

Genetic molecular testing involves the analysis of human DNA, RNA, chromosomes, certain metabolites and proteins to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes. Certain genetic molecular tests have been demonstrated to be of significant value in providing information with regard to diagnosis and treatment of a given condition. However, clinical usefulness of any genetic molecular test is dependent on the availability of specific, effective interventions to reduce risk or treat disease. When the results of conventional tests are inconclusive, the use of genetic molecular testing may add an additional measure of certainty to diagnosis, permitting refinement of clinical therapy.

Commercial availability in and of itself does not ensure that a genetic molecular test is indicated for clinical application. Genetic molecular testing is a rapidly evolving science in which the significance of detecting specific germ-line mutations has yet to be clarified, especially in individuals with no known family history of a given disease.

Prior approval is recommended for genetic testing.  Submit a prior approval now

Policy: 

Certain genetic molecular tests may be considered medically necessary, if provided under the following conditions to a patient with personal or family history features suggestive of a genetic cancer susceptibility condition, and if the results will assist in diagnosis or influence medical or surgical management.

• The genetic molecular testing is conducted in a laboratory certified, at a minimum, under the Clinical Laboratory Improvement Amendments of 1988 (CLIA).
• The genetic molecular testing is accompanied by pre-and post-test genetic counseling, which discusses the possible risks and benefits of early detection and prevention modalities.

Genetic molecular testing may be considered medically necessary for individuals presenting with symptoms of cystic fibrosis but have a negative sweat chloride test.

Genetic molecular testing for the diagnosis and management of Long QT Syndrome may be considered medically necessary for any of the following individuals:

• Those presenting with demonstrated prolonged QT-interval on resting EKG or Holter and in whom acquired cause has been ruled out
• Those with a positive first-degree family history of sudden death or near-sudden death
• Those with a first-degree relative who has a positive genetic test for Long QT Syndrome.

Genetic molecular testing for the diagnosis and management of Tay Sachs disease may be considered medically necessary for any of the following individuals:

• Those with known risk factors (Ashkenazi Jewish or French-Canadian heritage, family history, medical history) for Tay Sachs disease
• For partners of Tay Sachs disease carriers as an aid in reproductive decision-making
• For prenatal diagnosis when both parents are known to be Tay Sachs disease carriers
• For individuals suspected of having a variant form of Tay Sachs disease, such as adult- or juvenile-onset or chronic Tay Sachs disease
• For individuals suspected of having a pseudodeficiency condition (asymptomatic non-Jewish individuals with low in vitro Hex-A activity).

Genetic molecular testing may be considered medically necessary for the diagnosis and management of factor V Leiden thrombophilia for patients presenting with any of the following:

• Age ≤ 50, any history of unexplained venous thrombosis
• Age ≤ 50 with unexplained arterial thrombosis in the absence of other risk factors for atherosclerotic vascular disease
• Venous thrombosis in unusual sites such as portal hepatic, mesenteric, and cerebral veins
• Recurrent venous thrombosis
• Venous thrombosis and a strong family history of thrombotic disease
• Venous thrombosis in pregnant women or women taking oral contraceptives
• Asymptomatic first-degree relatives of individuals with proven symptomatic thrombophilia
• Myocardial infarction in female smokers under age 50
• Recurrent pregnancy loss (i.e., two or more consecutive pregnancy losses)

Genetic molecular tests conducted solely for knowledge when the knowledge will not alter the medical or surgical management of the patient is considered not medically necessary.

Conditions for which genetic molecular testing is considered not medically necessary include, but are not limited to:

• Alzheimer’s disease
• Alpha 1-antitrypsin deficiency
• Ataxia telangiectasia syndrome
• Hemophilia A and B
• Huntington’s chorea
• Myotonic dystrophy
• Sickle cell disease
• Prader-Willi syndrome
• Amyotrophic lateral sclerosis

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Procedure Codes and Billing Guidelines: 

• To report provider services, use appropriate CPT** codes, Alpha Numeric (HCPCS level 2) codes, Revenue codes, and/or ICD-9-CM diagnostic codes.

These HCPCS codes may be used to report genetic testing:

• S3800 Genetic testing for amyotrophic lateral sclerosis (ALS)
• S3835 Complete gene sequence analysis for cystic fibrous genetic testing
• S3837 Complete gene sequence analysis for hemochromatosis genetic testing
• S3842 Genetic testing for Von Hippel-Lindau disease
• S3843 DNA analysis of the F5 gene for susceptibility to factor V Leiden thrombophilia
• S3844 DNA analysis of the connexin 26 gene (GJB2) for susceptibility to congenital, profound deafness
• S3845 Genetic testing for alpha-thalassemia
• S3846 Genetic testing for hemoglobin E beta-thalassemia testing
• S3847 Genetic testing for Tay-Sachs disease
• S3848 Genetic testing for Gaucher disease
• S3849 Genetic testing for Niemann-Pick disease
• S3850 Genetic testing for sickle cell anemia
• S3851 Genetic testing for Canavan disease
• S3852 DNA analysis for APOE epilson 4 allele for susceptibility to Alzheimer's disease
• S3853 Genetic testing for myotonic muscular dystrophy
• S3855 Genetic testing for detection of mutations in the presenilin, 1 gene 

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Selected References: 

• Burke W. Genetic testing. N Engl J Med; 2002 Dec; 347(23): 1867-75.
• Mathew C. Post genomic technologies: hunting the genes for common disorders. BMJ 2001; 322:1031-4.
• GeneTests-GeneReviews web site; http//www.geneclinics.org
• McConnell LM, Koenig BA, Greely HT et al. Genetic testing and Alzheimer’s disease: has the time come? Alzheimer Disease Working Group of the Stanford Program in genomics, Ethics & Society. Nat Med 1998; 4(7):757-9.
• Tsunag D, Larson EB, Bowen J et al. The utility of apolipoprotein E genotyping in the diagnosis of Alzheimer disease in a community-based case series. Arch Neurol 1999; 56(12):1489-95.
• Guttmacher AE, Collins FS. Genomic Medicine-a primer. N Engl J Med; 2002 347(23):1512-20.
• OMIM: Online Mendelian Inheritance in Man. Bethesda, Md.: National Center for Biotechnology Information. Accessed February 15, 2005, at http://www.ncbi.nlm.nih.gov/omim/.
• Ashley-Koch A, Yang Q, Olney RS. Sickle hemoglobin (HbS) allele and sickle cell disease a HuGE review. Am J Epidemiol 2000; 151:839-45.
• Califf RM. Defining the Balance of Risk and Benefit in the Era of Genomics and Proteomics. Health Affairs Jan-Feb 2004; 23(1):77-87.
• Institute for Clinical Systems Improvement (ICSI). Genetic Carrier Testing for Cystic Fibrosis. Technology Assessment Report. TA#69. Copyright© 2003 by ICSI.
• Philips KA, Ackeran MJ, Sakowski J. Cost effectiveness analysis of genetic testing for familial Long QT syndrome in symptomatic index cases. Heart Rhythm. 2005; 1294-300.
• American College of Obstetrics and Gynecology (ACOG) Committee on Genetics. Opinion #318: Screening for Tay Sachs disease. Obstet Gynecol. 2005; 106:893-4.
• Marchiori A, Mosena L, Prins MH et al. The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation. A systematic review of prospective studies. Haematologica. 2007 Aug;92(8):1107-14.
• Wu O, Robertson L, Ttwaddle S et al. Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: risk and Economic Assessment of Thrombophilia Screening (TREATS) study. Health Technol Assess. 2006 Apr;10(11):1-110. 

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Wellmark Blue Cross and Blue Shield
Medical Policy Analyst
Station 304
636 Grand Ave
Des Moines, Iowa 50309

*Prior Approval is recommended for this policy.

**Current Procedural Terminology © 2008 American Medical Association. All Rights Reserved.

Wellmark medical policies address the complex issue of technology assessment of new and emerging treatments, devices, drugs, etc.   They are developed to assist in administering plan benefits and constitute neither offers of coverage nor medical advice. Wellmark medical policies contain only a partial, general description of plan or program benefits and do not constitute a contract. Wellmark does not provide health care services and, therefore, cannot guarantee any results or outcomes. Participating providers are independent contractors in private practice and are neither employees nor agents of Wellmark or its affiliates. Treating providers are solely responsible for medical advice and treatment of members. Our medical policies may be updated and therefore are subject to change without notice.