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Genetic and HLA testing

Labcorp's genetic and HLA testing options can help guide diagnostic and treatment decisions for patients with certain rheumatologic diseases.

Our genetic and HLA testing options include next-generation sequencing (NGS) for Ehlers-Danlos syndrome, similar connective tissue diseases, and for periodic fever syndromes including familial Mediterranean fever, as well as HLA typing for spondyloarthropathies, rheumatoid arthritis, Behçet's disease and gout treatment.
 

Testing by:

NGS for connective tissue disorders (CTD)

Genetic testing for genes associated with different CTDs

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GeneSeq® Connective Tissue: Ehlers-Danlos Syndrome Panel

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disease (CTD) disorders that affect joints, skin, blood vessels and other organs. This panel analyzes 20 genes associated with EDS and other inherited CTDs.

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NGS for immunology

Identify immune system genetic disorders with testing for genes associated with immunodeficiencies

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GeneSeq® Immuno: Periodic Fever Syndromes Panel

Periodic fever syndromes are a group of of autoinflammatory disorders that cause recurrent fevers. Most of these disorders are inherited and result from a gene mutation. This panel analyzes 58 genes associated with these periodic fever syndromes.

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482500

GeneSeq® PLUS, MEFV

Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder that causes recurrent fevers, skin rashes and inflammation of the abdomen, chest and joints, commonly seen in people of Mediterranean and Middle Eastern descent, including Jews, Armenians, Arabs, Kurds, Greeks, Turks, Iranians, and Italians.1 This sequencing assay of the MEFV gene is used for carrier and diagnostic testing for FMF.

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HLA testing

Human leukocyte antigens (HLAs) are a group of highly polymorphic cell surface proteins involved in the regulation of the immune response. HLA tests can identify the presence or absence of specific HLA alleles that have been linked to disease or drug hypersensitivity reactions relevant to rheumatology.

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HLA-B*27 Disease Association

The HLA-B*27 test provides insights regarding the presence or absence of the B*27 allele, which is closely associated with several spondyloarthropathies (SpAs). Along with a correlative patient history—including symptoms such as chronic pain; inflammation in the spine, neck, eyes, chest and/or joints; and/or degenerative changes to bones—a positive HLA-B*27 test may support the diagnosis of conditions such as ankylosing spondylitis, reactive arthritis or sacroiliitis.2 

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167418

HLA-DRB1 Rheumatoid Arthritis HLA Association

The HLA-DRB1 test allows an assessment of risk for anti-citrullinated protein antibody positive (ACPA+) RA. The specific HLA-DRB1 alleles that predispose to RA are the DRB1*01:01, *01:02, *04:01, *04:04, *04:05, *04:08, *09:01, *10:01, and *14:02 alleles that carry a “shared epitope”; these alleles increase the risk of RA in all populations, but the degree of predisposition may vary with different populations.3

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167389

HLA-B*51 Disease Association

HLA-B*51 is associated with Behçet's disease (BD), a rare, chronic and multisystem disease caused by vasculitis of blood vessels throughout the body. The disease course is marked by recurrent ulcers of the oral and genital regions, often with severe ocular inflammation that may lead to visual impairment or blindness. HLA-B*51 is the predominant risk factor for BD in all populations studied; however, not all BD patients carry the B*51 allele. The presence of HLA-B*51 in an affected patient may aid in the diagnosis of BD. The disease is most prevalent in individuals of Middle Eastern, East Asian and Mediterranean descent.4 

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HLA-B*58:01 Allopurinol Hypersensitivity

HLA-B*58:01 is associated with risk for severe cutaneous adverse drug reaction (SCAR) to allopurinol, a drug commonly used to treat gout. Allopurinol-associated SCAR may include Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and drug reaction with eosinophilia and systemic symptoms (DRESS), all of which are serious and potentially fatal. This type of reaction is rare, occurring in only 0.05% of patients, but is more common in patients with African and Pacific Islander ancestry and from Asian subpopulations (Han Chinese, Korean or Thai).5 The drug label recommends prescreening these populations for HLA-B*58:01 and avoiding the use of allopurinol in patients positive for B*58:01.6

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Genetic insights are key to advancing healthcare. 

Get the data needed to personalize care for every patient with Labcorp's genetic and HLA testing services.

Connect with your Labcorp representative.
 

Genetics Customer Service: 800-345-GENE (4363)

HLA Customer Service: 800-533-1037

References

1. Bhatt H, Cascella M. Familial Mediterranean Fever. [Updated 2023 Jul 31]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024. https://www.ncbi.nlm.nih.gov/books/NBK560754/

2. Braun J, Sieper J. Fifty years after the discovery of the association of HLA B27 with ankylosing spondylitis. RMD Open. 2023;9(3):e003102. doi:10.1136/rmdopen-2023-00310

3. Roudier J , Balandraud N , Auger I. How RA associated HLA-DR molecules contribute to the development of antibodies to citrullinated proteins: the Hapten carrier model. Front Immunol. 2022;13:930112. doi:10.3389/fimmu.2022.930112

4. Pamukcu M, Duran TI, Demirag MD. HLA-B51 impact on clinical symptoms in Behcet's disease. J Coll Physicians Surg Pak. 2022;32(7):904-908. doi:10.29271/jcpsp.2022.07.904

5. Park HW, Kim DK, Kim SH, et al. Efficacy of the HLA-B∗58:01 screening test in preventing allopurinol-induced severe cutaneous adverse reactions in patients with chronic renal insufficiency-a prospective study. J Allergy Clin Immunol Pract. 2019;7(4):1271-1276. doi:10.1016/j.jaip.2018.12.012

6. Label: Allopurinol injection, powder, lyophilized, for solution. DailyMed. https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=2caf5eed-2408-4ce0-bd0d-04f4c90e434d