Genetic predisposition to celiac disease
Celiac disease (DC) is a permanent intolerance to gluten characterized by an inflammatory reaction in the mucosa of the small intestine caused by an immune response that hinders the absorption of macro and micronutrients. The most frequent symptoms of CD are weight loss and appetite, fatigue, nausea, vomiting, diarrhea, abdominal distension and pain, loss of muscle mass, delayed growth and depression, among others. CD occurs in individuals with a genetic predisposition. About 90% of patients with celiac disease are HLA-DQ2 positive, while the others have allelic variants that encode HLA-DQ8 without HLADQ2 (6%) or only one HLA-DQ2 allele. Therefore, genetic analysis is extremely important to aid in the confirmation of diagnostic suspicion.
Celia Test consists of a genetic study that analyzes the HLA-DQ2 and HLA-DQ8 risk haplotypes. A DNA extraction and subsequent amplification by Multiplex-Fluorescent PCR (MF-PCR) of the DQA1*0501 and DQB1*0201 alleles of the HLA-DQ2 haplotype, and the DQA1*0301 and DQB1*0302 alleles of the HLADQ8 haplotype are performed from a patient blood sample.
• Patients with clinical suspicion and negative serologic study, before performing the biopsy.
• Investigate genetic susceptibility in relatives of a celiac patient. If these patients are DQ2 or DQ8 positive they should carry out a clinical follow-up, since they can develop the disease over time.
• Patients with positive serological studies who do not want to perform the biopsy.
• Patients who follow a gluten-free diet without being correctly diagnosed and in which the reintroduction of gluten occurs.
Multiplex-fluorescent PCR (MF-PCR)
• Guaranteed from the experience of the Synlab group, the absolute European leader in laboratory diagnosis.
• It has a high negative predictive value, which allows excluding the CD with a high precision.
• Fasting is not necessary for the test.