Nuuma Genetics

Celiac disease

Why get this screening?

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Celiac disease is a chronic autoimmune disorder that affects 1% of the population, causing an immune system reaction to the intake of gluten present in cereals and other commonly consumed products. In most patients, it takes an average of 10 years to establish a diagnosis of celiac disease.

The classic manifestation of this pathology is an enteropathy that involves intestinal atrophy and, as a consequence, malabsorption syndrome with complications such as diarrhea, fatigue, weight loss, swelling and anemia. In children, it can affect development and growth. There are other extra-digestive manifestations of the disease, such as gynecological, neurological, endocrine (hypothyroidism) and dermatological (psoriasis or dermatitis herpetiformis) manifestations.

The genetic test for celiac disease consists of the determination of the HLA-DQ2 haplotype (DQA1*05:01, DQB1*02), present in almost 90% of cases, and the HLA-DQ8 haplotype (DQB1*03:02 allele), present in approximately 5% of the remaining cases. Because of this, a negative result for both markers has excellent negative predictive value for the disease. Being a carrier of one of these haplotypes does not necessarily imply that the disease will develop (approximately 35-40% of the general population has the HLA-DQ2 and/or HLA-DQ8 heterodimers), but it does increase the risk of suffering it tenfold.

DNA is extracted from a saliva or peripheral blood sample in EDTA, and the alleles of the class II histocompatibility antigens (HLA) that give rise to the haplotypes DQ2 (alleles DQB1*02, DQA1*05) and DQ8 (DQB1*0302) are studied, using b-globin as an internal control in a real-time polymerase chain reaction (q-PCR).

The following results are possible:

  • Very high risk. Presence of HLA-DQ2 with two copies of the HLA-DQB1*02 allele.
  • High risk. Presence of HLA-DQ2 with a single copy of the HLA-DQB1*02 allele or be HLA-DQ8 homozygous.
  • Moderate risk. Presence of HLA-DQ8 and/or HLA-DQB1*02 allele.
  • Low risk. Presence of the HLA-DQA1*05 allele.
  • No risk alleles.

Be sure to discuss the results of this test with your doctor.

nuuma genetics

Celiac disease

What does it involve?

Celiac disease

Benefits

  • 1.he importance of the genetic test lies in its high negative predictive value (close to 100%), but it lacks a high positive predictive value; therefore, it should not be used by itself to diagnose celiac disease.
  • 2.It allows finding an early solution so it does not continue to affect the quality of life of the affected individual.

Celiac disease

Who is it for?

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  • People who have digestive symptoms.
  • People who want to know their genetic predisposition to gluten intolerance, even if they do not have symptoms.
  • People with a close relative who has celiac disease.
  • Persons suspected of having celiac disease who have not had an intestinal biopsy, as well as people with a positive serology and doubtful/normal biopsy or patients with symptoms and negative serology and biopsy.