Test Directory
Browse our comprehensive catalog of genetic tests
Bird Shot Retinopathy (HLA-A29)
Birdshot retinopathy is a rare form of posterior uveitis and accounts for 1-3% of uveitis cases in general. Birdshot retinopathy causes severe, progressive inflammation of both the choroid and the retina. Birdshot retinopathy is the disease with the strongest association to a HLA class I antigen, with more than 95% of patients carrying the HLA-A29 antigen. HLA-A*29:02, which is the most frequent A29 allele in the Caucasian population is also the allele most frequently associated with Birdshot retinopathy in Caucasians. The disease has however been observed in HLA*29:01 Caucasian patients.
ImmunogeneticsCeliac Disease
Celiac disease is a chronic, inherited autoimmune disorder in which exposure to gluten proteins from wheat, barley, and rye provokes an abnormal immune response in genetically predisposed individuals, resulting in small intestinal mucosal injury, villous atrophy, and impaired nutrient absorption; clinically, it presents with a broad spectrum of gastrointestinal and systemic symptoms, and management requires lifelong adherence to a strict gluten‑free diet to achieve mucosal healing and prevent complications.
ImmunogeneticsHLA-B*58:01 (Allopurinol Hypersensitivity Testing)
HLA-B*58:01 is a genetic variant strongly associated with severe, potentially life-threatening hypersensitivity reactions to the drug allopurinol, particularly in certain ethnic populations.
ImmunogeneticsHLA-C*06 (Psoriasis vulgaris / Ustekinumab Response)
HLA-C*06:02 is a genetic marker strongly associated with psoriasis vulgaris and may influence clinical response to ustekinumab, a biologic therapy targeting IL-12/IL-23.
ImmunogeneticsKIR and HLA-C Genotyping
Test assess the risk of embryo rejection. KIR and HLA-C genotyping assesses maternal-foetal immune compatibility. Differences between maternal killer-cell immunoglobulin-like receptor (KIR) genes and foetal HLA-C alleles may increase the risk of abnormal immune responses, which can contribute to implantation failure, recurrent miscarriage, preeclampsia, or preterm birth.
ImmunogeneticsNarcolepsy (HLA-DQB1*0602)
Narcolepsy is a chronic, debilitating sleep disorder. One of the most important associated genetic factors is the HLA-DQB1*06:02 allele on the DRB1*15:01-DQA1*01:02-DQB1*06:02 haplotype. Between 85 and 95% of narcolepsy patients with cataplexy carry this haplotype. Persons homozygous for HLA-DQB1*06:02 carry a greater risk than heterozygous persons. The detection of HLA-DQB1*06:02 typing is useful as an aid to diagnosis in patients with cataplexy.
Immunogenetics