Notification

Genetic Testing


Notification Issue Date: 08/20/2013



Policy Attachment


Attachment to Policy # 06.02.35e


Attachment:B (Services that are Considered Medically Necessary (MN) with Criteria)

Policy #:06.02.35e

Description:Services that are Considered Medically Necessary with Criteria

Title:Genetic Testing


Inclusion of a code in this table does not imply reimbursement. Eligibility, benefits, limitations, exclusions, precertification/referral requirements, provider contracts, and Company policies apply.

The codes listed below are updated on a regular basis, in accordance with nationally accepted coding guidelines. Therefore, this policy applies to any and all future applicable coding changes, revisions, or updates.

In order to ensure optimal reimbursement, all health care services, devices, and pharmaceuticals should be reported using the billing codes and modifiers that most accurately represent the services rendered, unless otherwise directed by the Company.


COMMERCIAL AND MEDICARE ADVANTAGE MEMBERS


Attachment B lists procedure codes that may represent medically necessary genetic testing and may be covered for an individual when the testing has a direct effect on the management and clinical care of the individual being tested and if test-specific criteria are met.

Ashkenazi Jewish Genetic Carrier Screening Panel

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes: 81200, 81209, 81242, 81250, 81251, 81255, and 81260 when any of the following indications are met:
  • Reproductive partners who are planning pregnancy or are pregnant, where at least one partner is a member of Ashkenazi Jewish heritage
  • High-risk individuals with a positive family history of the disease

Services represented by the CPT codes 81200, 81209, 81242, 81250, 81251, 81255 and 81260 are considered not medically necessary and, therefore, not covered for general population screening.

Genetic testing is considered medically necessary and, therefore, covered for the service represented by CPT code 81205 in high-risk individuals with Ashkenazi Jewish heritage for diagnostic purposes only.
Code
81200
81205
81209
81242
81250
81251
81255
81260
81290
81330

BRCA Testing

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes 81211, 81212, 81213, 81214, 81215, 81216, and 81217 when the criteria in the Genetic Testing for Inherited Breast Cancer 1 (BRCA1) and Breast Cancer 2 (BRCA2) Mutations policy are met.

See the current version of Genetic Testing for Inherited Breast Cancer 1 (BRCA1) and Breast Cancer 2 (BRCA2) Mutations policy 06.02.06 for medically necessary criteria.
Code
81211
81212
81213
81214
81215
81216
81217

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Testing:
Genetic testing is considered medically necessary and, therefore, covered for services represented by CPT code 81220 when any of the following indications are met:

  • Reproductive partners who are planning pregnancy or are pregnant
  • High-risk individuals with a positive family history of the disease OR individuals suspected of the disease
  • Individuals with a congenital absence of vas deferens
Code
81220
Genetic testing is considered medically necessary and, therefore, covered for services represented by CPT code 81221 when the following indication is met:
  • Presence of mutations or variants that are not a part of ACMG mutation panels and have been identified in a family member
Code
81221

Genetic testing is considered medically necessary and, therefore, covered for services represented by CPT code 81222 when any of the following indications are met:
  • Individuals with relatives with known deletion/duplication variants
  • Individuals suspected of the disease when none of the common mutations are identified using ACMG mutation panels or sequencing
Code
81222

Genetic testing is considered medically necessary and, therefore, covered for services represented by CPT code 81223 when the results from the CPT code 81220 genetic test are negative or inconclusive.
Code
81223

Genetic testing is considered medically necessary and, therefore, covered for services represented by CPT code 81224 for individuals suspected of cystic fibrosis transmembrane conductance regulator (CFTR)--related male infertility or males with the absence of a vas deferens.
Code
81224


CYP450 Genotyping for CYP2C19

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT code 81225 for genotyping of CYP2C19 *2 and *3 alleles in individuals with cardiovascular disease undergoing treatment with clopidogrel (Plavix®) to identify poor metabolizers of the drug.

Repeat CYP2C19 genotyping is NOT medically necessary and, therefore, not covered because the available published peer-reviewed literature does not support their use in the diagnosis OR treatment of illness or injury.

Code
81225
EGFR

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT code 81235 when the criteria in the current version of the Pharmacogenetic Testing for Drug Sensitivity policy 06.02.30 attachments H (Genetic testing for epidermal growth factor receptor (EGFR) mutation in individuals with non-small cell lung cancer (NSCLC) as a technique to predict treatment response to erlotinib (Tarceva®)) are met.
Code
81235

Hereditary Hypercoagulability

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes 81240 and 81241 when any of the following indications are met:

  • Individuals under age <50 with any venous thrombosis
  • Relatives of individuals with a positive family history of venous thrombosis
  • Venous thrombosis in pregnant women or women taking oral contraceptives
  • Myocardial infarction in female smokers under age 50
  • Females with recurrent pregnancy loss, or second trimester miscarriage, intrauterine fetal growth retardation, or stillbirth
  • Individuals with venous thrombosis, age >50, except when active malignancy is present

Services represented by the CPT codes 81240 and 81241 are considered not medically necessary and, therefore, not covered for general population screening.
Code
81240
81241

Chromosomal Microarray (CMA) Analysis for the Genetic Evaluation of Patients with Developmental Delay/Intellectual Disability, or Autsim Spectrum Discorder

Whole genome chromosomal microarray analyses (CMA)/cytogenomic constitutional (genome-wide) microarray analyses represented by CPT codes 81228 and S3870 are considered medically necessary and, therefore, covered only for diagnosing a genetic abnormality in children with apparent nonsyndromic cognitive developmental delay/intellectual disability (DD/ID) or autism spectrum disorder (ASD) according to accepted Diagnostic and Statistical Manual of Mental Disorders-V criteria when all of the following conditions are met (see applicable definitions below*):
  • Any indicated biochemical tests for metabolic disease have been performed, and results are non-diagnostic, and
  • FMR1 gene analysis (for Fragile X), when clinically indicated, is negative, and
  • In addition to a diagnosis of nonsyndromic DD/ID or ASD, the child has one or more of the following:
    • two or more major malformations, or
    • a single major malformation or multiple minor malformations, in an infant or child who is also small-for-dates, or
    • a single major malformation and multiple minor malformations, and
  • The results for the genetic testing have the potential to impact the clinical management of the patient, and
  • Testing is requested after the parent(s) have been engaged in face-to-face genetic counseling with a healthcare professional who has appropriate genetics training and experience.

* Definitions, from the American College of Medical Genetics Guideline, Evaluation of the Newborn with Single or Multiple Congenital Anomalies:
    - A malformation refers to abnormal structural development.
    - A major malformation is a structural defect that has a significant effect on function or social acceptability. Examples: ventricular septal defect or a cleft lip.
    - A minor malformation is a structural abnormality that has minimal effect on function or societal acceptance. Examples: preauricular ear pit or partial syndactyly (fusion) of the second and third toes.
    - A syndrome is a recognizable pattern of multiple malformations. Syndrome diagnoses are often relatively straightforward and common enough to be clinically recognized without specialized testing. Examples include Down syndrome, neural tube defects, and achondroplasia. However, in the very young, or in the case of syndromes with variable presentation, confident identification may be difficult without additional testing.

In some cases of CMA analysis, the laboratory performing the test confirms all reported CNVs with an alternative technology such as fluorescence in situ hybridization (FISH) analysis.
Code
81228
S3870

Fragile X

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes 81243 and 81244 when any of the following indications are met:

  • Individuals with intellectual disability or developmental delay, autism, undiagnosed history of intellectual disability, or who are exhibiting clinical symptoms of Fragile X syndrome
  • Reproductive partners who are planning pregnancy or are pregnant and who have a family history of the disease or an undiagnosed history of intellectual disability
  • Fetuses of mothers who are known carriers of Fragile X syndrome

Services represented by the CPT codes 81243 and 81244 are considered not medically necessary and, therefore, not covered for general population screening.
Code
81243
81244
GJB2 and GJB6

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes 81252, 81253, and 81254, and HCPCS code S3844 for the following:

  • For the diagnosis of DFNB1 or DFNA3 in individuals with nonsyndromic hearing loss.
Code
81252
81253
81254
S3844

Hereditary Hemochromatosis

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT code 81256 when any of the following indications are met:

  • Individual with clinical symptoms of iron overload and serum transferrin saturation ≥45%, and /or ferritin above the upper limit of normal
  • Individual with a family history of hemochromatosis
Code
81256

JAK2

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT code 81270 for any of the following:

  • For qualitative assessment of JAK2-V617F sequence variant using methods with detection thresholds of up to 5% for initial diagnostic assessment of adults presenting with symptoms of CMPD
  • For diagnostic assessment of polycythemia vera in adults
Code
81270

KRAS

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT code 81275 for KRAS sequence variant testing to predict response to treatment with anti-EGFR monoclonal antibodies (ie, testing for cetuximab and panitumumab monotherapy and for combination therapy of cetuximab with irinotecan or oxaliplatin) in individuals with metastatic colorectal cancer who have failed or are refractory to first- or second-line chemotherapy.

For more information see the current version of Pharmacogenetic Testing for Drug Sensitivity policy 06.02.30 attachments E (Genetic testing for BRAF mutation analysis in metastatic colorectal cancer to predict nonresponse to anti-EGFR monoclonal antibodies, cetuximab and pantimumab) and G (Genetic testing for somatic mutations by KRAS mutation analysis in non-small cell lung cancer technique to predict treatment response to erlotinib (Tarceva®)).

Code
81275

Long QT syndrome

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes 81280, 81281, and 81282, and HCPCS code S3861 when the criteria in the Genetic Testing for Congenital Long QT Syndrome policy are met.

See the current version of the Genetic Testing for Congenital Long QT Syndrome policy 06.02.31 for medically necessary criteria.

Code
81280
81281
81282

MLH1 and MSH2

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes 81292, 81293 and 81294, 81295, 81296 and 81297 when the criteria in Genetic Testing for Inherited Susceptibility to Colon Cancer and Microsatellite Instability Testing (Familial Adenomatous Polyposis and Lynch Syndrome) policy are met.

See the current version of Genetic Testing for Inherited Susceptibility to Colon Cancer and Microsatellite Instability Testing (Familial Adenomatous Polyposis and Lynch Syndrome) policy #06.02.10 for medically necessary criteria.

Code
81292
81293
81294
81295
81296
81297

MSH6

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes 81298, 81299, and 81300 when the criteria in Genetic Testing for Inherited Susceptibility to Colon Cancer and Microsatellite Instability Testing (Familial Adenomatous Polyposis and Lynch Syndrome) policy are met.

See the current version of Genetic Testing for Inherited Susceptibility to Colon Cancer and Microsatellite Instability Testing (Familial Adenomatous Polyposis and Lynch Syndrome) policy #06.02.10 for medically necessary criteria.

Code
81298
81299
81300

PMS2

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes 81317, 81318, and 81319 when the criteria in Genetic Testing for Inherited Susceptibility to Colon Cancer and Microsatellite Instability Testing (Familial Adenomatous Polyposis and Lynch Syndrome) policy are met.

See the current version of Genetic Testing for Inherited Susceptibility to Colon Cancer and Microsatellite Instability Testing (Familial Adenomatous Polyposis and Lynch Syndrome) policy #06.02.10 for medically necessary criteria.

Code
81317
81318
81319
Microsatellite instability analysis

Genetic testing is considered medically necessary and, therefore, covered for services represented by CPT code 81301 for microsatellite instability testing as an initial screening for Lynch syndrome prior to testing for sequence variants in the mismatch repair genes.

For more information and medical necessity criteria, see the current version of the Genetic Testing for Inherited Susceptibility to Colon Cancer and Microsatellite Instability Testing (Familial Adenomatous Polyposis and Lynch Syndrome) policy #06.02.10.
Code
81301

APC Mutational Analysis

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes 81201, 81202, 81203, and HCPCS codes S3833 and S3834 when the criteria in Genetic Testing for Inherited Susceptibility to Colon Cancer and Microsatellite Instability Testing (Familial Adenomatous Polyposis and Lynch Syndrome) policy are met.

See the current version of the Genetic Testing for Inherited Susceptibility to Colon Cancer and Microsatellite Instability Testing (Familial Adenomatous Polyposis and Lynch Syndrome) policy #06.02.10 for medically necessary criteria.
Code
81201
81202
81203
S3833
S3834

MECP2

Genetic testing is considered medically necessary and, therefore, covered for services represented by CPT codes 81302, 81303, and 81304 in either of the following scenarios:

  • For testing for MECP2 sequence variants in patients who have some symptoms of Rett syndrome but do not meet established clinical diagnostic criteria
  • For prenatal testing for MECP2 sequence variants in the parents of children with Rett syndrome who meet the established clinical diagnostic criteria and for whom there is evidence that Rett syndrome was inherited rather than occurred sporadically
Code
81302
81303
81304
PMP22

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes 81324, 81325, and 81326 for the following:

  • For an individual with an oncology inidication with unexplained or preexisting familial neuropathy consistent with Charcot-Marie-Tooth disease.
  • For prenatal or preimplantation genetic diagnosis of Charcot-Marie-Tooth disease Type 1A.
Code
81324
81325
81326
PTEN

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes 81324, 81325, and 81326 for the following:

  • To confirm the diagnosis when a patient has clinical signs of a PTEN hamartoma tumor syndrome.
  • Genetic testing for a PTEN mutation may be considered medically necessary in a first -degree relative* of a proband with a known PTEN mutation.

Genetic testing for a PTEN mutation is considered experimental/investigational and, therefore, not coveredfor all other indications, including, but not limited to, prenatal testing.

* Testing a first-degree relative

When a deleterious familial PTEN mutation is known, testing for the specific familial mutation should be performed.

If there is no known familial PTEN mutation, comprehensive testing includes full sequence analysis and deletion/duplication analyses. The order of testing to optimize yield would be 1) Sequencing of PTEN exons 1-9 and flanking intron regions. If no mutation is identified, perform 2) deletion/duplication analysis. If no mutation is identified, consider, 3) Promoter analysis (research). Promoter analysis detects mutations in ~10% of individuals with CS who do not have an identifiable mutation in the PTEN coding region.

Code
81321
81322
81323
SNRPN/UBE3A

Genetic testing is considered medically necessary and, therefore, covered for services represented by CPT code 81331 for either of the following indications:

  • Diagnosis of Prader-Willi syndrome (PWS) in symptomatic neonates, infants, children, or adults
  • In symptomatic children for diagnosis of Angelman Syndrome (AS)
Code
81331
Genetic Testing for Alpha-1 Antitrypsin Deficiency

Genetic testing is considered medically necessary and, therefore, covered for services represented by CPT code 81332 when both of the following conditions are met:
  • Patient is suspected of having alpha-1 antitrypsin deficiency because of clinical factors and/or because the patient may be at high risk of having alpha-1 antitrypsin deficiency due to a first-degree relative with AAT deficiency; AND
  • Patient has a serum alpha-1 antitrypsin level in the range of severe deficiency
Code
81332

T cell antigen beta and gamma

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT codes 81340, 81341, and 81342 when results from these tests are interpreted in the context of clinical, histologic, and immunophenotypic data concerning leukemia and lymphoma, especially when monitoring minimal residual disease.

Code
81340
81341
81342

Fetal Fibronectin

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT code 82731 when the criteria in the current version of the Fetal Fibronectin Enzyme (fFN) Immunoassay policy 06.02.04 are met.
Code
82731

AlloMap™ Molecular Expression Testing for Heart Transplant Rejection

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT code 86849 when the criteria in the current version of the AlloMap™ Molecular Expression Testing for Heart Transplant Rejection policy 06.02.29 are met.
Code
86849

Human Immunodeficiency Virus (HIV) Genotyping and Phenotyping

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT code 87900, 87901, 87903, 87904, and 87906 when the criteria in the current version of Human Immunodeficiency Virus (HIV) Genotyping and Phenotyping policy 06.02.09 are met.
Code
87900
87901
87903
87904
87906

Preimplantation Genetic Diagnosis (PGD) Testing

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT code 88271, 888272, 88273, 88274, 88275, 88291, and 88365 when the criteria in the current version of the Preimplantation Genetic Diagnosis (PGD) Testing policy 06.02.24 are met.
Code
88271
88272
88273
88274
88275
88291
88365

In Vitro Chemosensitivity and Chemoresistance Assays

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT code 89240 when the criteria in the current version of the In Vitro Chemosensitivity and Chemoresistance Assays policy 06.02.14 are met.
Code
89240

Assays of Genetic Expression in Tumor Tissue for Breast Cancer Prognosis

Genetic testing is considered medically necessary and, therefore, covered for services represented by the HCPCS code S3854 when the criteria in the current version of the Assays of Genetic Expression in Tumor Tissue for Breast Cancer Prognosis policy 06.02.27 are met.
Code
S3854

In Vitro Chemosensitivity and Chemoresistance Assays

Genetic testing is considered medically necessary and, therefore, covered for services represented by the CPT code 89240 when the criteria in the current version of the In Vitro Chemosensitivity and Chemoresistance Assays policy 06.02.14 are met.
Code
89240

Nucleic acid sequencing-based testing of maternal plasma
Genetic testing is considered medically necessary and, therefore, covered for services represented by HCPCS code 0005M when the following criteria are met:
  • In women with high-risk singleton pregnancies undergoing screening for fetal aneuploidy.
- Karyotyping would be necessary to exclude the possibility of a false positive nucleic acid
sequencing–based test.
- Before testing, women should be counseled about the risk of a false positive test.

Nucleic acid sequencing-based testing of maternal plasma for fetal aneuploidy is considered not medically necessary and, therefore, not covered in women with low- or average-risk singleton pregnancies.

Nucleic acid sequencing-based testing of maternal plasma for fetal aneuploidy is considered experimental/investigational in women with twin or multiple pregnancies.
Code
0005M
Physician Interpretation and Report

HCPCS code G0452 is considered medically necessary and, therefore, covered when performed for services that are considered medically necessary by the Company.
Code
G0452

Version Effective Date: 10/01/2013

Connect with Us        


© 2014 Independence Blue Cross.
Independence Blue Cross is an independent licensee of the Blue Cross and Blue Shield Association, serving the health insurance needs of Philadelphia and southeastern Pennsylvania.