Thursday, March 7, 2019

CPT 81405, 81406, 81407, 81439, s3865, s3866 -Hypertrophic Cardiomyopathy

Code Description CPT

81405 Molecular pathology procedure, Level 6 (eg, analysis of 6-10 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 11-25 exons, regionally targeted cytogenomic array analysis). This code includes:
* ACTC1 (actin, alpha, cardiac muscle 1) (eg, familial HCM), full gene sequence * MYL2 (myosin, light chain 2, regulatory, cardiac, slow) (eg, familial HCM), full gene
sequence * MYL3 (myosin, light chain 3, alkali, ventricular, skeletal, slow) (eg, familial HCM),
full gene sequence * TNNC1 (troponin C type 1 [slow]) (eg, hypertrophic cardiomyopathy or dilated
cardiomyopathy), full gene sequence * TNNI3 (troponin I, type 3 [cardiac]) (eg, familial HCM), full gene sequence
* TPM1 (tropomyosin 1 [alpha]) (eg, familial HCM), full gene sequence

Molecular pathology procedure, Level 7 (eg, analysis of 11-25 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 26-50 exons, cytogenomic array analysis for neoplasia). This code includes:
* TNNT2 (troponin T, type 2 [cardiac]) (eg, familial HCM), full gene sequence

81407 Molecular pathology procedure, Level 8 (eg, analysis of 26-50 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of >50 exons, sequence analysis of multiple genes on one platform). This code includes:
* MYBPC3 (myosin binding protein C, cardiac) (eg, familial HCM), full gene sequence
* MYH7 (myosin, heavy chain 7, cardiac muscle, beta) (eg, familial HCM, Liang distal myopathy), full gene sequence

81439 Inherited cardiomyopathy (eg, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy) genomic sequence analysis panel, must include sequencing of at least 5 genes, including DSG2, MYBPC3, MYH7, PKP2, and TTN

S3865 Comprehensive gene sequence analysis for hypertrophic cardiomyopathy

S3866 Genetic analysis for a specific gene mutation for hypertrophic cardiomyopathy (HCM) in an individual with a known HCM mutation in the family


Hypertrophic cardiomyopathy is a condition where the muscle cells of the heart become big. This can make the walls of the heart thicker than normal, and because the walls surrounding the heart’s pumping chambers get thicker, the chambers become smaller than they should be. Hypertrophic cardiomyopathy is usually inherited, and is caused by changes to one or more of the person’s genes. The muscle problems eventually lead to enlargement of the heart and possible problems with the heart’s rhythm and valves. This policy discusses when genetic testing for this form of cardiomyopathy may be considered medically necessary.

Note:   The Introduction section is for your general knowledge and is not to be taken as policy coverage criteria. The rest of the policy uses specific words and concepts familiar to medical professionals. It is intended for providers. A provider can be a person, such as a doctor, nurse, psychologist, or dentist. A provider also can be a place where medical care is given, like a hospital, clinic, or lab. This policy informs them about when a service may be covered. 

Testing Medical Necessity

Genetic testing for predisposition to HCM
Genetic testing for HCM gene variants
Genetic testing for predisposition to HCM

Genetic testing for predisposition to HCM may be considered medically necessary for individuals who are at risk for developing HCM.  * “At risk” is defined as having a first-degree relative who has a  confirmed diagnosis of HCM and the relative has a documented pathogenic gene variant (see below).

Genetic testing for HCM gene variants may be considered medically necessary for the index patient with confirmed clinical HCM, when used to assist unaffected first degree family members (see Benefit Application section).

Genetic testing for predisposition to HCM is considered not medically necessary for patients with a family history of HCM in which a first-degree relative has tested negative for pathologic variants.

Due to the complexity of genetic testing for hypertrophic cardiomyopathy (HCM) and the potential for misinterpretation of results, the decision to test and the interpretation of test results should be performed by, or in consultation with, an expert in the area of medical genetics and/or HCM.

To inform and direct genetic testing for at-risk individuals, genetic testing should initially be performed in at least one close relative with a confirmed diagnosis of HCM (index case), if possible. See Practice Guidelines and Position Statements and Benefit Application section for information regarding testing of the index case. 
Because there are varying degrees of penetrance for different HCM variants, consideration for testing of second- or third-degree relatives may be appropriate in certain circumstances. Some judgment should be allowed for these decisions, for example, in the case of a small family pedigree. Consultation with an expert in medical genetics and/or the genetics of HCM, in conjunction with a detailed pedigree analysis, is appropriate when testing of second- or third- degree relatives is considered.

Genetics Nomenclature Update

The Human Genome Variation Society nomenclature is used to report information on variants found in DNA and serves as an international standard in DNA diagnostics. (see Table 1). The Society’s nomenclature is recommended by the Human Variome Project, the HUman Genome Organization, and by the Human Genome Variation Society itself.

The American College of Medical Genetics and Genomics and the Association for Molecular Pathology standards and guidelines for interpretation of sequence variants represent expert opinion from both organizations, in addition to the College of American Pathologists. These recommendations primarily apply to genetic tests used in clinical laboratories, including genotyping, single genes, panels, exomes, and genomes. Table 2 shows the recommended standard terminology—“pathogenic,” “likely pathogenic,” “uncertain significance,” “likely benign,” and “benign”—to describe variants identified that cause Mendelian disorders.

Table 1. Nomenclature to Report on Variants Found in DNA  Previous  Updated  Definition
Mutation Disease-associated variant Disease-associated change in the DNA sequence

Variant Change in the DNA sequence 
Familial variant Disease-associated variant identified in a proband for use in subsequent targeted genetic testing in first-degree relatives

Table 2. ACMG-AMP Standards and Guidelines for Variant Classification
Variant Classification Definition
Pathogenic Disease-causing change in the DNA sequence
Likely pathogenic Likely disease-causing change in the DNA sequence 
Variant of uncertain significance Change in DNA sequence with uncertain effects on disease
Likely benign Likely benign change in the DNA sequence
Benign Benign change in the DNA sequence
American College of Medical Genetics and Genomics; AMP: Association for Molecular Pathology.

Genetic Counseling

Genetic counseling is primarily aimed at patients who are at risk for inherited disorders, and experts recommend formal genetic counseling in most cases when genetic testing for an inherited condition is considered. The interpretation of the results of genetic tests and the understanding of risk factors can be very difficult and complex. Therefore, genetic counseling will assist individuals in understanding the possible benefits and harms of genetic testing, including the possible impact of the information on the individual’s family. Genetic counseling may alter the utilization of genetic testing substantially and may reduce inappropriate testing. Genetic counseling should be performed by an individual with experience and expertise in genetic medicine and genetic testing methods.

Benefit Application

Some Plans may have contract or benefit exclusions for genetic testing. Recommendations indicate that, when possible, genetic testing for hypertrophic
cardiomyopathy be performed in an affected family member so that testing in unaffected, atrisk family members can focus on the variant found in the affected family member. This testing is intended to document whether a known pathologic variant is present in the family and to optimize the predictive value of predisposition testing for at-risk relatives. However, coverage for testing of the affected index case depends on contract benefit language when there is no conclusive evidence of clinical benefit to the index case from testing.

Specific contract language must be reviewed and considered when determining coverage for testing. In some cases, coverage for testing the index case may be available through the contract that covers the unaffected, at-risk individual who will benefit from knowing the results of the genetic test.

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