Original Policy Date

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1 MP Genetic Counseling 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 Counseling involves communications between patients and appropriate medical professionals to provide information and advice to patients who have an actual or potential genetic disease and its possible impact on their family. It is intended to enable patients and their families to make informed medical decisions. Policy Genetic counseling in connection with pregnancy management is medically necessary for evaluation of any of the following: Pregnant women with maternal age 35 years or greater at delivery Parents of a child born with a genetic disorder, birth defect, inborn error of metabolism or chromosome abnormality Pregnant women who, based on prenatal ultrasound tests or an abnormal multiple marker screening test, maternal serum alpha-fetoprotein (AFP) test, test for sickle cell anemia, or tests for other genetic abnormalities have been told their pregnancy may be at increased risk for complications or birth defects Parents of a child with unexplained mental retardation Pregnant women, or women planning pregnancy, exposed to potentially teratogenic, mutagenic or carcinogenic agents

2 Either parent affected with an autosomal dominant disorder Mother, known or presumed carrier of an X-linked recessive disorder Previous unexplained stillbirth or repeated (three or more) first trimester miscarriages, when there is suspicion of parental or fetal chromosome abnormalities Infertility cases when either parent is known to have a chromosomal abnormality Individuals with primary amenorrhea, azoospermia, abnormal sexual development or failure in developing secondary sexual characteristics Individuals from ethnic groups recognized to be at increased risk for specific genetic disorders Familial cancer disorders Genetic counseling unrelated to pregnancy is medically necessary when provided in conjunction with medically necessary genetic testing, and in acordance with the guidelines of the American College of Medical Genetics (ACMG). 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

3 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 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

4 (eg, diepoxybutane, mitomycin C, ionizing radiation, UV radiation) Chromosome analysis; count 5 cells, 1 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 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 Medical genetics and genetic counseling services, each 30 minutes face-to-face with patient/family S0265 Genetic counseling; under physician supervision, each 15 minutes S3800 Genetic testing for amyotrophic lateral sclerosis (ALS) S3818 Genetic testing; Complete gene sequence analysis; BRCA 1 gene

5 S3819 S3820 S3822 S3823 S3828 S3829 S3830 S3831 S3833 S3834 S3835 S3837 S3840 S3841 S3842 S3843 S3844 S3845 S3846 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 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

6 ICD-9 Diagnosis S3847 S3848 S3849 S3850 S3851 S3852 S3853 S3854 S3855 multiple codes 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