Coeliac disease (CD) is a disease of the small intestine. It is a type of autoimmune disorder where the villus in the small intestine is sensitive or allergic to certain foods or metabolites that contain gluten.
The test helps to estimate an individual's specific risk rate based on their personal genetic pattern.
The test detects six SNPs to predict the HLA-DQ2/DQ8 risk variants carried by >95% of CD patients.
The absence of HLA-DQ2/DQ8 risk variants makes the diagnosis of CD highly unlikely, and the disease can essentially be ruled out. Indications for testing • Patients with symptoms such as chronic diarrhea with weight loss, steatorrhea, postprandial abdominal pain, and bloating • Seronegative patients with unclear small-bowel histological findings • Patients on a gluten free diet (GFD) who have not been tested for CD before GFD • Patients with discrepant celiac-specific serology and histology • Individuals at a high risk for CD (e.g. first-degree relatives, specific syndromes and diseases) Benefits of testing • Genetic test and confirmatory serological analyses allow reducing the numbers of distressing gastroscopies. • The absence of HLA-DQ2/DQ8 risk variants could be the basis for exclusion of CD if the individual with CD symptoms has discordant or negative serological and histological findings. • Identification of HLA-DQ2/DQ8 risk variants greatly assists in the early diagnosis of CD, and thus allows starting a therapeutic diet, as well as regular monitoring for people with CD.
CD can occur with many symptoms, ranging from typical gastrointestinal manifestations to only atypical signs. Frequently featured symptoms of the disease include abdominal pain, diarrhea, steatorrhea, nausea, vomiting, and weight loss. The prevalence of CD is estimated from 1:100 to 1:300 depending on particular population. CD has a multifactorial inheritance. Pathogenesis of CD is caused by a combination of environmental factors, immunologic factors and variations in multiple genes.
Sample collection is by oral brushings
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