Test Microbiota Intestinale
Test Microbiota Intestinale

HLA Genetic Test for Celiac Disease

€150,00

Sample required: Non-invasive saliva swab. Stable for 90 days at 8–28 °C 

Methodology: Real-time PCR (CE-IVD marked) 

Turnaround time: 1 week 

The HLA Genetic Test for Celiac Disease (IVD) is a highly precise molecular analysis performed via a simple, non-invasive saliva swab. Using the real-time PCR technique, the test determines the presence of the HLA-DQ2 and HLA-DQ8 genetic predisposition alleles. The absence of these alleles allows for the exclusion of celiac disease with a negative predictive value of over 99%. As it is a genetic test, the result does not change throughout one's life; it is performed only once and does not require gluten intake at the time of sampling.

Test method

Informed consent

artt. 13 e 9 Reg. UE 2016/679 - GDPR

Required

Consent to the processing of health-related data for care purposes (section 3.a).

Required

Consent to receiving the service via teleconsultation, with the limits described in the notice.

Optional

Consent to possible recording of the session (not required for the service).

How does it work?

  • Self-collection: Perform the simple saliva swab at home painlessly.
  • Shipment to the laboratory: Send the sample to the laboratory using the included prepaid envelope. The stabilizing solution ensures preservation at room temperature without the need for a cold chain.
  • Molecular analysis and reporting: The laboratory performs DNA extraction and Real Time PCR on the target alleles; the IVD report will be available within 1 week.

Since an individual's genetic makeup remains unchanged, the HLA test for celiac disease is performed only once in a lifetime. 

Why choose?

  • Very high Negative Predictive Value (>99%): The absence of HLA-DQ2 and HLA-DQ8 variants allows celiac disease to be excluded with a reliability margin of nearly 100%.
  • Independent of a gluten-containing diet: Unlike serological tests (anti-transglutaminase/endomysium antibodies) and intestinal biopsy, the genetic test does not require gluten intake and can be perfectly performed even by those already following a gluten-free diet.
  • Rapid and non-invasive execution: Saliva sampling is painless, suitable for all ages, and provides a report in just 1 week.
  • IVD Quality Standards: Developed and validated as an in vitro diagnostic medical device for maximum analytical accuracy.

Who is it for?

Genetic testing is particularly indicated for:

  • First-degree relatives of individuals with a confirmed diagnosis of celiac disease (parents, children, siblings).
  • Individuals with compatible gastrointestinal or extra-intestinal symptoms awaiting a clear diagnostic workup.
  • Those who have already eliminated or reduced gluten from their diet and cannot or do not intend to undergo a gluten "challenge" for serology or biopsy.
  • Patients affected by related autoimmune diseases, such as Hashimoto's thyroiditis, Type 1 diabetes, vitiligo, or suspected seronegative celiac disease.
  • Children and pediatric subjects with a family history of celiac disease, to avoid more invasive, blood-draw-dependent procedures.

Disclaimer

  • Genetic predisposition vs. Active disease: A positive result indicates the presence of a genetic predisposition, but does not equate to a diagnosis of active celiac disease. The disease develops only in a percentage of genetically predisposed individuals; therefore, a positive result always requires evaluation and assessment by a primary care physician or a gastroenterologist.
  • Exclusion of the condition: A negative result (absence of both DQ2 and DQ8) allows for the near-certain exclusion of both current and future development of celiac disease, guiding the diagnosis toward other forms of sensitivity or functional disorders.
  • Therapeutic planning: The test does not in itself constitute an indication to independently start a gluten-free diet (gluten-free). Any changes to dietary habits must be agreed upon with a healthcare professional following the completion of the diagnostic process.