Genetic (Human Leukocyte Antigen) Testing for Celiac Disease
Does Not Apply to Commercial Genetic Testing Program effective 6/1/2018
Celiac disease (CD) is an autoimmune disorder where the ingestion of gluten leads to damage in the small intestine. Either one or both of the human leukocyte antigen (HLA) DQ2 or DQ8 genes are carried by individuals with celiac disease; however, up to 30% of the general population also carries one or both of these genes. A negative gene test would exclude having or ever having the disease, but a positive result would not necessarily mean the individual has celiac disease. Celiac disease (CD), which is also referred to as celiac sprue or gluten-sensitive enteropathy, may be defined as small intestinal inflammation resulting from an immunologic intolerance to gluten (i.e., the proteins derived from wheat, barley, and rye).
Celiac disease may develop at any time from infancy to adulthood. In children, the disease typically presents between 6 and 24 months, and is characterized by abnormal stools, poor appetite, and irritability. In adults, diarrhea, bloating, abdominal pain are usually the presenting symptoms. Definitive diagnosis is based on small intestinal biopsies showing a flattened intestinal mucosa in association with an inflammatory infiltrate. Blood tests for IgA antibody deficiencies such as Tissue Transglutaminase Antibodies (tTG-IgA) will be positive in about 98% of individuals who are on a gluten-containing diet. Other antibody tests, such as IgA endomysial antibody (EMA) and deaminated gliadin peptide (DGP IgA and IgG) are available to double-check for potential false positives or false negatives.
Genetic testing for HLA-DQ2 and/or HLA-DQ8 alleles to rule out celiac disease is considered medically necessary if the medical appropriateness criteria are met (See Medical Appropriateness below).
Genetic testing for HLA-DQ2 and/or HLA-DQ8 alleles as a screening tool to determine risk for celiac disease in asymptomatic individuals or rule out any other conditions/diseases is considered investigational.
Genetic testing for human leukocyte antigen (HLA-DQ2 and/or HLA-DQ8) alleles to rule out celiac disease is considered medically appropriate if ANY ONE of the following are met:
Discordant findings in ALL of the following:
Serologic ( e.g., tTG-IgA, EMA-IgA, tTG IgG, EMA IgG, AGA) results
Histologic (biopsy) results
Persistent symptoms suggestive of celiac disease (e.g. diarrhea, abdominal pain, bloating) despite negative serologic and histologic findings
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We develop Medical Policies to provide guidance to Members and Providers. This Medical Policy relates only to the services or supplies described in it. The existence of a Medical Policy is not an authorization, certification, explanation of benefits or a contract for the service (or supply) that is referenced in the Medical Policy. For a determination of the benefits that a Member is entitled to receive under his or her health plan, the Member's health plan must be reviewed. If there is a conflict between the Medical Policy and a health plan, the express terms of the health plan will govern.
American College of Gastroenterology. (May, 2013). ACG clinical guidelines: diagnosis and management of celiac disease. Retrieved May 14, 2018 from https://gi.org/guidelines/.
BlueCross BlueShield Association. Evidence Positioning System. (12:2019). Human leukocyte antigen testing for celiac disease (2.04.95). Retrieved March 26, 2020 from http://www.evidencepositioningsystem.com/. (13 articles and/or guidelines reviewed)
Children’s Digestive Health and Nutrition Foundation. North American Society of Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN). (2016). Diagnosis and treatment of celiac disease in children, clinical practice guideline summary. Retrieved March 17, 2017 from http://www.naspghan.org.
National Institute for Health and Care Excellence. (2015, September). Coeliac disease: recognition, assessment and management. Retrieved June 3, 2016 from https://www.nice.org.uk.
Werkstetter, K.J., Korponay-Szabó, I.R., Popp, A., Villanacci, V., Salemme, M., Heilig, G., et al. (2017). Accuracy in diagnosis of celiac disease without biopsies in clinical practice. Gastroenterology, 153 (4), 924-935. Abstract retrieved March 20, 2019 from PubMed database.
ORIGINAL EFFECTIVE DATE: 7/11/2011
MOST RECENT REVIEW DATE: 2/11/2021
Policies included in the Medical Policy Manual are not intended to certify coverage availability. They are medical determinations about a particular technology, service, drug, etc. While a policy or technology may be medically necessary, it could be excluded in a member's benefit plan. Please check with the appropriate claims department to determine if the service in question is a covered service under a particular benefit plan. Use of the Medical Policy Manual is not intended to replace independent medical judgment for treatment of individuals. The content on this Web site is not intended to be a substitute for professional medical advice in any way. Always seek the advice of your physician or other qualified health care provider if you have questions regarding a medical condition or treatment.
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