Original Policy Date

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1 MP Genetic Testing Medical Policy Section Medicine Issue 12:2013 Original Policy Date 12:2013 Last Review Status/Date Created Local Policy/12:2013 Return to Medical Policy Index Disclaimer Our medical policies are designed for informational purposes only and are not an authorization, or an explanation of benefits, or a contract. Receipt of benefits is subject to satisfaction of all terms and conditions of the coverage. Medical technology is constantly changing, and we reserve the right to review and update our policies periodically. Description Genetic molecular testing is 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. 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-like mutations has yet to be clarified, especially in individuals with no known family history of a given disease. There are a number of independent laboratories promoting genetic testing to identify patients with genetic predisposition for many disease states. Although this is exciting technology, the presence of a particular genotype does not always have a high positive or negative predictive value that the disease will or will not be expressed. In addition, there is little information to suggest that knowledge will impact the outcome of that particular disease, i.e. there may be no treatment, as in Huntington's Chorea. Additional concerns arise because tests promoted by individual laboratories, do not have to meet any quality standard and there is no requirement of proof of efficacy. Only tests that are produced as "kits" to be sold to other commercial laboratories require clearance through the FDA. For example, if Roche Laboratories creates a genetic test kit to be sold to laboratories, such as LabCorp, the kit must meet scrutiny of the FDA. On the other hand, a test created by a company such as Prometheus Laboratories, which is performed only by that lab, and marketed to others, requires no scrutiny. Policy

2 In order to provide effective care for our members it will be necessary to consider each test on an individual basis. This policy applies to tests not otherwise described in other medical policies. Policy Guidelines Genetic testing is considered 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 be used specifically for diagnosis or the result of the test will directly affect 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 The providing laboratory must be approved by the FDA or other governmental agency; and Peer-reviewed literature is available that provides evidence for the indications and performance of the test or the indication for the test is in accordance with the guidelines of the American College of Medical Genetics. Occasionally, genetic testing of tissue samples from other family members who are not covered by FCC may be required to provide the medical information necessary for the proper medical care of a FCC member. FirstCarolinaCare covers genetic testing for heritable disorders in nonmembers when all of the following conditions are met: The information is needed to adequately assess risk in the FCC member; and The information will be used in the immediate care plan of the FCC member; and The non-member's benefit plan, if any, will not cover the test (a copy of the denial letter from the non-member's benefit plan must be provided). FirstCarolinaCare may also request a copy of the certificate of coverage from the nonmember's health insurance plan if: 1) the denial letter from the non-member's insurance carrier fails to specify the basis for non-coverage; 2) the denial is based on a specific plan exclusion; or 3) the genetic test is denied by the non-member's insurance carrier as not medically necessary and the medical information provided does not clarify why testing would not be of significant medical benefit to the non-member. Any decision to cover a test under this policy will be considered medically necessary for the individual in question and not a precedent for general coverage under the member contract. Coverage will be under the sole discretion of the plan as defined under individual benefits management. Molecular diagnostic testing in many clinical situations is considered investigational and may be denied as an exclusion of the member contract.

3 Codes Number Description CPT Molecular diagnostics (DNA) testing often done as part of genetic testing, each nucleic acid type (ie. DNA or RNA) Molecular diagnostics; isolation or extraction of highly purified nucleic acid, each nucleic acid type (ie, DNA or RNA) Molecular diagnostics;enzymatic digestion, each enzyme treatment Molecular diagnostics; dot/slot blot production, each nucleic acid preparation Molecular diagnostics; separation by gel electrophoresis (eg, agarose, polyacrylamide, each nucleic acid preparation Molecular diagnostics; nucleic acid probe, each Molecular diagnostics; nucleic acid transfer (eg, Souther, Northern), each nucleic acid preparation Molecular diagnostics; amplification, target, each nucleic acid sequence Molecular diagnostics; amplification, target, multiplex, first two nucleic acid sequences Molecular diagnostics; amplification, target, multiplex, each additional nucleic acid sequence beyond 2 (listed separately in addition to code for primary procedure) Molecular diagnostics; reverse transcription Molecular diagnostics; mutation scanning, by physical properties (eg, single strand conformational polymorphisms (SSCP), heteroduplex, denaturing gradient gel electrophoresis (DGGE), RNA'ase A), single segment,each Molecular diagnostics; mutation identification by sequencing, single segment, each segment Molecular diagnostics; mutation identification by allele specific transciption, single segment, each segment Molecular diagnostics; mutation identification by allele specific translation, sigle segment, each segment

4 Molecular diagnostics; lysis of cells prior to nucleic acid extraction (eg, stool specimens, paraffin embedded tissue), each specimen Molecular diagnostics; amplification, signal, each nucleic acid sequence Molecular diagnostics; separation and identification by high resolution technique (eg, capillary electrophoresis), each nucleic acid preparation Molecular diagnostics; interpretation and report Molecular diagnostics; RNA stabilization Mutation identification by enzymatic ligation or primer extension, single segment, each segment (eg, oligonucleotide ligation assay )OLA), single base chain extension (SBCE), or allele-specific primer extension (ASPE)) Cytogenetics and molecular cytogenetics, interpretation and report Genetic Testing; chromosome analysis for breakage syndromes; baseline Sister Chromatid Exchange (SCE), cells Chromosome analysis for breakage syndromes; baseline breakage, score cells, count 20 cells, 2 karyotypes (eg, for ataxia telangiectasia, Fanconi anemia, fragile X) Chromosome analysis for breakage syndromes; score 100 cells, clastogen stress (eg, diepoxybutane, mitomycin C, ionizing radiation, UV radiation) Chromosome analysis; count 5 cells, karyotype, with banding Chromosome analysis; count 45 celss for mosaicism, 2 karotypes, with banding Chrmosome analysis; anayze cells Chromosome analysis, amniotic fluid or chorionic villus, count 15 cells, 1 karyotype, with banding Chromosome analysis, in situ for amniotic fluid cells, count cells from 6-12 colonies, 1 karyotype, with banding Molecular cytogenetics; DNA probe, each (eg, FISH) Molecular cytogenetics; chromosomal in situ hybridization, analyze 3-5 cells (eg, for

5 S3800 S3818 S3819 S3820 S3822 S3823 S3828 S3829 S3830 S3831 S3833 derivatives and markers) Molecular cytogenetics; chromosomal in situ hybridization, analyze cells (eg, for microdeletions) Molecular cytogenetics; interphase in situ hybridization, analyze cells Molecular cytogenetics; interphase in situ hybridization, analyze cells Chromosome analysis; additional karyotypes, each study Chromosome analysis; additional specialized banding technique (eg, NOR, C-banding) Chromosome analysis; additional cells counted, each study Chromosome analysis; additional high resolution study Cytogenetics and molecular cytogenetics, interpretation and report Genetic testing for amyotrophic lateral sclerosis (ALS) Genetic testing; Complete gene sequence analysis; BRCA 1 gene Complete gene sequence analysis; BRCA 2 gene Complete analysis BRCA 1 and BRCA 2 gene sequence analysis for susceptibility to breast and ovarian cancer Single mutation analysis (in individual with a known BRCA1 of BRCA2 mutation in the family) for susceptibility to breast and ovarian cancer Three-mutation BRCA1 and BRCA2 analysis for susceptibility to breast and ovarian cancer in Ashkenazi individuals Complete gene sequence analysis; MLH1 gene Complete gene sequence analysis; MLH2 gene Complete MLH1 and MLH2 gene sequence analysis for hereditary nonpolyposis colorectal cancer (HNPCC) genetic testing Single-mutation analysis (in individual with a known MLH1 and MLH2 mutation in the family) for hereditary nonpolyposis colorectal cancer (HNPCC) genetic testing Complete APC gene sequence analysis for

6 ICD-9 Diagnosis S3834 S3835 S3837 S3840 S3841 S3842 S3843 S3844 S3845 S3846 S3847 S3848 S3849 S3850 S3851 S3852 S3853 S3854 S3855 multiple codes susceptibility to familial adenomatous polyposis (FAP) and attenuated fap Single-mutation analysis (in individual with a known APC mutation in the family) for susceptibility to familial adenomatous polyposis (FAP) and attenuated FAP Complete gene sequence analysis for cystic fibrosis genetic testing Complete gene sequence analysis for hemochromatosis genetic testing DNA analysis for germline mutations of the RET proto-oncogene for susceptibility to multiple endocrine neoplasia type 2 Genetic testing for retinoblastoma Genetic testing for Von Hippel-Lindau disease DNA analysis of the F5 gene for susceptibility to factor V Leiden thrombophilia DNA analysis of the connexin 26 gene (GJB2) for susceptibility to congenital, profound deafness Genetic testing for alpha-thalassemia Genetic testing for hemoglobin E betathalassemia Genetic testing for Tay-Sachs disease Genetic testing for Gaucher disease Genetic testing for Neimann-Pick disease Genetic testing for sickle cell anemia Genetic testing for Canavan disease DNA analysis for APOE epilson 4 allele for susceptibility to Alzheimer's disease Genetic testing for myotonic muscular dystrophy Gene expression profiling panel for use in the management of breast cancer treatment Genetic testing for detection of mutations in the presenilin-1 gene Index Genetic testing

American Board of Medical Genetics and Genomics

American Board of Medical Genetics and Genomics Logbook Guidelines for Certification in Laboratory Genetics and Genomics for the 2019 Examination as of 11/10/2016 Purpose: The purpose of the logbook is