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Coverage criteria policies

Genetic Testing for Gastrointestinal Disorders

These services may or may not be covered by your HealthPartners plan. Please see your plan documents for your specific coverage information. If there is a difference between this general information and your plan documents, your plan documents will be used to determine your coverage.

Administrative Process

Prior authorization is required for genetic testing for gastrointestinal disorders, except for the following services:

  • Genetic testing for alpha-1 antitrypsin deficiency (SERPINA1 gene)
  • Single-gene analysis for hereditary hemochromatosis (HFE gene)

For somatic testing related to cancer, please see the Genetic Testing: Molecular Profiling for Cancer Management policy.

For germline genetic testing related to cancer susceptibility, please see the Genetic Testing for Cancer Predisposition policy.

Coverage

Indications that are covered

Single-gene and multiple-gene analysis for these conditions is covered when criteria 1-3 listed below are met:

  • Citrin deficiency
  • Familial Mediterranean fever
  • Hyperimmunoglobulin D syndrome
  • TNF receptor-1 associated periodic syndrome
  1. The test is ordered by a board-certified gastroenterologist; immunologist; hepatologist; geneticist; rheumatologist; or infectious disease specialist, or advanced-practice nurse in gastroenterology, immunology, hepatology, genetics, rheumatology, or infectious disease and is expected to directly impact management of a specific, clinically-suspected, gastrointestinal disorder or to determine predisposition to a specific, inheritable, gastrointestinal disorder.
  2. The member has received genetic counseling with a board-certified genetic counselor or medical geneticist who is not affiliated with the commercial testing laboratory, if applicable.
  3. The member has a personal history consistent with the condition being evaluated or a first-degree relative diagnosed with the condition under evaluation.

Genetic testing for alpha-1 antitrypsin deficiency (SERPINA1 gene) is covered when criteria 1-2 listed below are met:

  1. The test is ordered by a board-certified gastroenterologist; hepatologist; geneticist; or pulmonologist; or advanced-practice nurse in gastroenterology, hepatology, genetics, or pulmonology and is expected to directly impact management of clinically-suspected alpha-1 antitrypsin deficiency or to determine predisposition to alpha-1 antitrypsin deficiency.
  2. The test has been recommended for one of the following indications:
  • Low serum alpha-1 antitrypsin (AAT) concentration
  • Functionally-deficient AAT protein variant by protease inhibitor (PI) typing
  • Serum AAT and AAT PI typing results are discordant
  • First-degree relative has been diagnosed with alpha-1 antitrypsin deficiency

Genetic testing for celiac disease (HLA-DQ2, HLA-DQ8) is covered when criteria 1-3 listed below are met:

  1. The test is ordered by a board-certified gastroenterologist or geneticist, or advanced-practice nurse in gastroenterology or genetics and is expected to directly impact management of clinically-suspected celiac disease.
  2. Serological testing showed negative results or serological testing was not performed before the member began following a gluten-free diet
  3. The test has been recommended for one of the following indications:
  • Equivocal small bowel histological findings or discrepant celiac-specific serology and histology results
  • Suspected celiac disease in a member with Down syndrome

Single-gene and multiple gene analysis and HLA typing for early onset inflammatory bowel disease (EOIBD) (see definition of EOIBD below) is covered when criteria 1-3 listed below are met:

  1. The test is ordered by a board-certified gastroenterologist or geneticist or advanced-practice nurse in gastroenterology or genetics and is expected to directly impact management of clinically-suspected EOIBD.
  2. Inflammatory bowel disease (IBD)-like pathology has been established by endoscopic and histological testing.
  3. Other causes of intestinal inflammation, including infection, celiac disease, and allergic colitis, have been ruled out.


Single-gene and multiple gene analysis for hereditary hemochromatosis is covered when criteria 1-3 listed below are met:

  1. The test is expected to directly impact management of hereditary hemochromatosis or to determine predisposition to hereditary hemochromatosis.
  2. The test has been recommended for one of the following indications:
  • Transferrin saturation level of less than 45% in either gender or serum ferritin greater than 200ng/mL in men or greater than 150ng/mL in women
  • First-degree relative has been diagnosed with hereditary hemochromatosis
  1. Other causes of iron overload, if present, such as hepatitis C-related liver disease, nonalcoholic steatohepatitis, and alcoholism, have been ruled out

Single-gene and multiple-gene analysis for hereditary pancreatitis is covered when criteria 1-3 listed below are met:

  1. The test is ordered by a board-certified gastroenterologist or geneticist or advanced-practice nurse in gastroenterology or genetics and is expected to directly impact management of hereditary pancreatitis or to determine predisposition to hereditary pancreatitis.
  2. The member has received genetic counseling with a board-certified genetic counselor or medical geneticist who is not affiliated with the commercial testing laboratory, if applicable.
  3. The test is recommended for one of the following indications:
  • The member is symptomatic and has any of the following:
    • Recurrent acute pancreatitis for which there is no identifiable cause
    • Idiopathic chronic pancreatitis
    • Unexplained, documented episode of pancreatitis as a child
    • Family history of recurrent, acute pancreatitis, idiopathic chronic pancreatitis, or childhood pancreatitis without a known cause in a first- or second-degree relative
  • First-degree relative diagnosed with hereditary pancreatitis

Genetic testing for Wilson disease (ATP7B gene) is covered when criteria 1-3 listed below are met:

  1. The test is ordered by a board-certified gastroenterologist, hepatologist, or geneticist or advanced-practice nurse in gastroenterology, hepatology, or genetics and is expected to directly impact management of Wilson disease or to determine predisposition to Wilson disease.
  2. The member has received genetic counseling with a board-certified genetic counselor or medical geneticist who is not affiliated with the commercial testing laboratory, if applicable.
  3. The test has been recommended for one of the following indications:
  • Liver biopsy and serum copper assay results are suggestive of Wilson disease but the diagnosis remains unclear
  • First-degree relative diagnosed with Wilson disease

Genetic testing for gastrointestinal disorders other than described above is subject for a review for medical necessity, based on current clinical literature and expert recommendations, unless listed below as an indication that is not covered.

Indications that are not covered

  1. Genetic testing for gastrointestinal disorders is not covered and is considered not medically necessary when test results will not directly impact the treatment or management of a condition because the testing is not expected to restore or maintain the member’s health, prevent deterioration of the member’s condition, nor prevent the reasonably likely onset of a health problem or detect an incipient problem.
  2. Repeat testing of a unique analyte using the identical method of analysis is not covered and is considered not medically necessary because it is not considered an appropriate frequency of care.
  3. Multiple-gene panels which include genes not associated with the specific condition under evaluation are not covered and are considered not medically necessary because they are not considered an appropriate type of service for the member’s condition.
  4. Genetic testing for celiac disease for all other indications is not covered and is considered not medically necessary because it is not considered an appropriate type of service for the member’s condition. This includes, but is not limited to, the following:
  • Testing of asymptomatic individuals, including asymptomatic relatives of individuals with confirmed celiac disease
  • Testing of members with positive serology or histology results or for whom no serological or histological evaluation was performed, except as described under Indications that are Covered
  1. The following services are not covered and are considered experimental and investigational because reliable evidence does not permit conclusions concerning safety, effectiveness, or effect on health outcomes:
  • Gene expression profiling of peripheral blood monocytes for the diagnosis of celiac disease
  • Genetic testing for Crohn disease, ulcerative colitis, and standard onset (i.e. not early onset) inflammatory bowel disease, including, but not limited to, the following:
    • NOD2/CARD15 genotyping
    • CD14 C-260T and interleukin-10-1082A/G polymorphism testing
    • Multianalyte panels with a genetic component (such as Prometheus® IBD sgi Diagnostic™ and Prometheus® Crohn’s Prognostic)
  • Genetic testing for the following indications:
    • Inherited intrahepatic cholestasis
    • Lactose intolerance
    • Periodontal disease
    • Weight management, including response to diet, nutrition, or exercise

Definitions

Gastrointestinal disorders are conditions involving the gastrointestinal tract, including the esophagus, stomach, intestines, and accessory organs of digestion (liver, gallbladder, pancreas).

Early onset inflammatory bowel disease, also known as monogenic inflammatory bowel disease, consists of a diverse spectrum of rare genetic disorders that produce inflammatory bowel disease-like intestinal inflammation that typically presents in infancy or early childhood. This spectrum includes conditions such as atypical severe combined immunodeficiency (SCID), chronic granulomatous disease (CGD), familial hemophagocytic lymphohistiocytosis, hyperimmunoglobulin M syndromes, and IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked).

If available, codes are listed below for informational purposes only, and do not guarantee member coverage or provider reimbursement. The list may not be all-inclusive.

Codes

Description

81221

CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; known familial variants

81222

CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; duplication/deletion variants

81223

CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; full gene sequence

81256

HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (eg, C282Y, H63D)

81332

SERPINA1 (serpin peptidase inhibitor, clade A, alpha-1 antiproteinase, antitrypsin, member 1) (eg, alpha-1-antitrypsin deficiency), gene analysis, common variants (eg, *S and *Z)

81376

HLA Class II typing, low resolution (eg, antigen equivalents); one locus (eg, HLA-DRB1, -DRB3/4/5, -DQB1, -DQA1, -DPB1, or -DPA1), each

81377

HLA Class II typing, low resolution (eg, antigen equivalents); one antigen equivalent, each

81382

HLA Class II typing, high resolution (ie, alleles or allele groups); one locus (eg, HLA-DRB1, -DRB3/4/5, -DQB1, -DQA1, -DPB1, or -DPA1), each

81383

HLA Class II typing, high resolution (ie, alleles or allele groups); one allele or allele group (eg, HLA-DQB1*06:02P), each

CPT Copyright American Medical Association. All rights reserved. CPT is a registered trademark of the American Medical Association.

Products

This information is for most, but not all, HealthPartners plans. Please read your plan documents to see if your plan has limits or will not cover some items. If there is a difference between this general information and your plan documents, your plan documents will be used to determine your coverage. These coverage criteria may not apply to Medicare Products if Medicare requires different coverage. For more information regarding Medicare coverage criteria or for a copy of a Medicare coverage policy, contact Member Services at 952-883-7979 or 1-800-233-9645.

References

  1. Ananthakrishnan, A. N., Huang, H., Nguyen, D. D., Sauk, J., Yajnik, V., & Xavier, R. J. (2014). Differential effect of genetic burden on disease phenotypes in Crohn’s disease and ulcerative colitis: analysis of a North American cohort. American Journal of Gastroenterology, 109, 395-400.
  2. Baffour-Awuah, N. Y., Fleet, S., Montgomery, R. K., Baker, S. S., Butler, J. L., Campbell, C., . . . Hirschhorn, J. N. (2015). Functional significance of single nucleotide polymorphisms in the lactase gene in diverse US patients and evidence for a novel lactase persistence allele at -13909 in those of European ancestry. Journal of Pediatric Gastroenterology and Nutrition, 60, 182-191.
  3. Candotti, F., & Notarangelo, L. D. (2015). Severe combined immunodeficiency (SCID) with JAK3 deficiency In: E. R. Stiehm, & E. TePas (Eds.). UpToDate. Waltham, MA: UpToDate.
  4. Goldfinger, S. E. (2015). Clinical manifestations and diagnosis of familial Mediterranean fever. In: L. S. Friedman, S. Grover & M. R. Curtis (Eds.). UpToDate. Waltham, MA: UpToDate.
  5. Goodman, R. P., & Chung, D. C. (2016). Clinical genetic testing in gastroenterology. Clinical and Translational Gastroenterology, 7, e167.
  6. Hayes, Inc. (2014a). Genotype IL-1. Philadelphia, PA: Hayes, Inc.
  7. Hayes, Inc. (2014b). Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Philadelphia, PA: Hayes, Inc.
  8. Hayes, Inc. (2015a). Citrin deficiency. Philadelphia, PA: Hayes, Inc.
  9. Hayes, Inc. (2015b). Congenital Disorders of Glycosylation (CGD) Panel. Philadelphia, PA: Hayes, Inc.
  10. Hayes, Inc. (2015c). Familial Mediterranean fever (FMF). Philadelphia, PA: Hayes, Inc.
  11. Hayes, Inc. (2015d). Healthy Weight DNA Insight. Philadelphia, PA: Hayes, Inc.
  12. Hayes, Inc. (2015e). JaundiceChip resequencing assay for inherited intrahepatic cholestasis. Philadelphia, PA: Hayes, Inc.
  13. Hayes, Inc. (2015f). LactoTYPE. Philadelphia, PA: Hayes, Inc.
  14. Hayes, Inc. (2016g). CD40LG gene variant testing for the diagnosis and management of X-linked hyper-IgM immunodeficiency syndrome type 1 (HIGM1). Philadelphia, PA: Hayes, Inc.
  15. Hayes, Inc. (2017). Prometheus IBD sgi Diagnostic (Prometheus Laboratories Inc.). Philadelphia, PA: Hayes, Inc.
  16. Higuchi, L. M., & Bousvaros, A. (2016). Clinical presentation and diagnosis of inflammatory bowel disease in children. In: M. B. Heyman & A. G. Hoppin (Eds.). UpToDate. Waltham, MA: UpToDate.
  17. Kelly, C. P. (2015). Diagnosis of celiac disease in adults. In: J. T. Lamont & S. Grover (Eds.). UpToDate. Waltham, MA: UpToDate.
  18. McClain, K. L., & Eckstein, O (2016). Clinical features and diagnosis of hemophagocytic lymphohistiocytosis. In: L. A. Boxer & A. G. Rosman (Eds.). UpToDate. Waltham, MA: UpToDate.
  19. Montgomery, R. K., Grand, R. J., & Buller, H. A. (2015). Lactose intolerance: Clinical manifestations, diagnosis, and management. In: L. S. Friedman & S. Grover (Eds.). UpToDate. Waltham, MA: UpToDate.
  20. Moradian, M. M., Sarkisian, T., Amaryan, G., Hayrapetyan, H., Yeghiazaryan, A., Davidian, N., & Avanesian, N. (2014). Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. Genetics in Medicine, 16, 258-263.
  21. Nigrovic, P. A. (2015). Tumor necrosis factor receptor-1 associated periodic syndrome (TRAPS). In: E. R. Stiehm, S. L. Kaplan, & E. TePas (Eds.). UpToDate. Waltham, MA: UpToDate.
  22. Peppercorn, M. A., & Kane, S. V. (2016). Clinical manifestations, diagnosis, and prognosis of Crohn disease in adults. In: P. Rutgeerts & S. Grover (Eds.). UpToDate. Waltham, MA: UpToDate.
  23. Rosenzweig, S. D., & Holland, S. M. (2016). Chronic granulomatous disease: Pathogenesis, clinical manifestations, and diagnosis. In: E. R. Stiehm & E. TePas (Eds.). UpToDate. Waltham, MA: UpToDate.
  24. Rubio-Tapia, A., Hill, I. D., Kelly, C. P., Calderwood, A. H., Murray, J. A., & American College of Gastroenterology, (2013). ACG clinical guidelines: Diagnosis and management of celiac disease. American Journal of Gastroenterology, 108, 656-676.
  25. Schilsky, M. L. (2015a). Wilson disease: Clinical manifestations, diagnosis, and natural history. In: E. B. Rand, B. A. Runyon, M. J. Aminoff, & A. C. Travis (Eds.). UpToDate. Waltham, MA: UpToDate.
  26. Schilsky, M. L. (2015b). Wilson disease: Diagnostic tests. In: E. B. Rand, B. A. Runyon, M. J. Aminoff, & A. C. Travis (Eds.). UpToDate. Waltham, MA: UpToDate.
  27. Schrier, S. L., & Bacon, B. R. (2016). Clinical manifestations and diagnosis of hereditary hemochromatosis. In: W. C. Mentzer, K. D. Lindor, & J. S. Timauer (Eds.). UpToDate. Waltham, MA: UpToDate.
  28. Snyder, J., Butzner, J. D., DeFelice, A. R., Fasano, A., Guandalini, S., Liu, E., & Newton, K. P. (2016). Evidence-informed expert recommendations for the management of celiac disease in children. Pediatrics, 138, e20153147.
  29. Uhlig, H. H., Schwerd, T., Koletzko, S., Shah, N., Kammermeier, J., Elkadri, A., . . . COLORS in IBD Study Group and NEOPICS. (2014). The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology, 147, 990-1007.
  30. United States Preventive Services Task Force, Bibbins-Domingo, K., Grossman, D. C., Curry, S. J., Barry, M. J., Davidson, K. W., . . . Tseng, C. W. (2017). Screening for celiac disease: US Preventive Services Task Force recommendation statement. JAMA, 317, 1252-1257.
  31. Whitcomb, D. C. (2016). Hereditary pancreatitis. In: M. B. Heyman & A. G. Hoppin (Eds.). UpToDate. Waltham, MA: UpToDate.

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Policy activity

  • 04/11/2017 - Date of origin
  • 07/01/2017 - Effective date

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