Why undergoing this examination?

Celiac Disease (CD) is characterized by intolerance to the ingestion of gluten, which belongs to a group of proteins present in most cereals such as barley, rye, wheat, and malt. For genetically predisposed individuals, celiac disease can be characterized by an inflammatory reaction in the mucosa of the small intestine, leading to atrophy of intestinal villi, hindering the absorption of macro and micronutrients, and resulting in a variety of clinical manifestations. The most frequent symptoms include weight loss and appetite, fatigue, nausea, vomiting, diarrhea, abdominal bloating and pain, loss of muscle mass, growth delay, and depression, among others. Approximately 90% of patients with celiac disease test positive for HLA-DQ2, while others have allelic variants encoding HLA-DQ8 (6%) or have only one allele of HLA-DQ2. 

What is this exam?

The Celia Test consists of a genetic study aimed at analyzing the risk haplotypes: HLA-DQ2 and HLA-DQ8. The test enables the analysis of the DQA10501 and DQB10201 alleles of the HLA-DQ2 haplotype and the DQA10301 and DQB10302 alleles of the HLA-DQ8 haplotype. 

For whom is it indicated?

• Patients with clinical suspicion and negative serological studies, before undergoing biopsy; 
• Patients with positive serological studies who do not wish to undergo biopsy; 
• Investigation of the family genetic susceptibility of a celiac patient. 
• Patients following a gluten-free diet without being correctly diagnosed and for whom gluten reintroduction occurs. 

Technology

Multiplex-fluorescent PCR (MF-PCR).