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Home digestive intolerances
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digestive intolerances

What do we offer?

  • icono de laboratorioDetection of genes involved in predisposition to : Intolerance to Gluten - Lactose - Fructose
  • icono de asesoramiento facultativoCounselling by a specialist before and after the analysis
  • icono de la muestraSample type: Collection of saliva through an oral swab
  • icono de tiempoResults in: 14 days*
  • 420 **
  • * Labour days counting from reception of the sample at the laboratory.
    ** Shipping charges included in peninsular Spain. Not included in Islands.

elige tu test genético

Why should you request this service?

What is the purpose of this analysis?

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  • To establish an early diagnosis of Celiac disease. This prevents severe complications, such as anemia, osteoporosis, myopathies, neuropathies and, the most serious complication, intestinal lymphoma. This test is highly recommended as part of a confirmation of diagnosis if you have symptoms close to the disease or if you have family members affected by the disease or compatible histological and serological findings.
    The analysis has a high negative predictive value, so not having the HLA DQ2, DQ8 or half-DQ2 genes allows us to exclude the risk of Celiac disease with 99% certainty.
    Conducting this analysis is also relevant in the context of a diagnostic confirmation. The percentage of patients diagnosed does not exceed 10% because in more than 50% of patients, the symptoms have nothing to do with typical symptoms. This contributes significantly to maintaining a high undiagnosed Celiac population in both children and adults. In addition, the average time to establish a diagnosis of celiac disease is 10 years.

  • To establish an early diagnosis of lactose intolreance. Lactase is a very fragile and vulnerable intestinal enzyme. If you suffer from lactose intolerance, you should completely avoid its ingestion. If your intolerance is undiagnosed and you continue to consume products containing lactose, the intestinal lesion worsens, resulting in nutrient malabsorption and a vicious cycle that is difficult to reverse. If the result is negative, your predisposition to develop lactose intolerance is ruled out, so the specialist should look for another explanation for your symptoms. The main interest of this analysis is to be able to determine if it is an intolerance due to genetic factors or if the symptoms result from another pathology.

  • To establish an early diagnosis of fructose intolreance.The absence of Aldoase B in the body causes the accumulation of fructose 1-phosphate in the liver, kidneys and small intestine. This accumulation considerably slows down glycogen uptake and glucose synthesis, causing severe hypoglycemia after fructose ingestion. After ingesting fructose or other sugars metabolized by fructose, if you experience severe abdominal pain and vomiting you should consider undergoing an analysis. Repeated and prolonged ingestion of fructose in children with the disease causes liver damage and growth retardation.

Should you do it?

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  • GLUTEN INTOLERENCE:

    • You have a family history
      • This test is especially recommended in the asymptomatic family if you suffer from Celiac disease. About 30% of the population in good health carries the markers of risk without never developing the disease. If you have a first-degree relative as a victim of the disease, the chances of developing it increase. Hence the importance of knowing your own susceptibility in order to diagnose the pathology quickly, from the onset of the first symptoms and thus be able to avoid any complications.
    • You do not have any family history:
      • You have symptoms of digestive intolerance.
      • You may have one of the associated diseases (lactose intolerance, fibromyalgia, osteoarthritis, dermatitis, etc.) or you have Down syndrome.
      • You have an autoimmune disease.
      • You reserve a doubt about the established diagnosis.

  • INTOLERANCE TO FRUCTOSE AND / OR LACTOSE

    • You have a family history
    • You don’t have any family history:
      • You have symptoms of digestive intolerance.
      • You are likely to have one of the associated diseases.
      • You have an autoimmune disease.
      • You reserve a doubt about an established diagnosis.

How does it work?

  1. elige tu test genético
    Choose your analysis and a healthcare professional will contact you in 48 hours
  2. frotis bucal para análisis
    You will receive a sample collector kit at home that will be picked up by a courier
  3. instrucciones de uso
    One of our partner labs will proceed to make the analysis
  4. instrucciones de uso
    Your healthcare professional will present your results by videoconference
go further

To go further:


Subtitles available in both English and French

Do you need more information?

  • What are the genes studied and what does it mean?>
      GEN OMIM or reference RELATED DISEASE SYNDROME
      HLA-DQA1 146880 It encodes a molecule belonging to the major histocompatibility complex, which participates in the presentation of antigens to T lymphocytes and allows the activation of critical processes in the generation of the immune response. Celiac disease
      HLA-DQB1 604305 It encodes a molecule belonging to the major histocompatibility complex, which participates in the presentation of antigens to T lymphocytes and allows the activation of critical processes in the generation of the immune response.
      MCM6 601806 MCM6 contains two regulatory regions of LCT, the current gene for lactase protein. Lactose intolerance
      ALDOB 612724 The ALDOB gene encodes the enzyme Aldolase B involved in the metabolism of fructose. Fructose intolerance
  • How to interpret the results?>
      POSITIVE NEGATIVE

      I. GLUTEN

      HETERODIMERE DQ2 (90% of cases): DQA1*05:XX/DQB1*02:XX
      DQ8 (5% of cases): DQA1*03:XX/DQB1*03:02
      Half DQ2 (> 5% of cases): DQA1* 02:XX/DQB1*02:XX o DQA1*05:XX/DQB1*03:01

      II. LACTOSE

      Gene MCM6:
      POLYMORPHISM c.-13910C>T
      POLYMORPHISM c.-22018G>A
      with the homozygous variants C and G, respectively present simultaneously

      III. FRUCTOSE

      Gene ALDOB°°:
      POLYMORPHISM c.448G>C (p.Ala150Pro)
      POLYMORPHISM c.524C>A (p.Ala175Asp)
      POLYMORPHISM c.1005C>G (p.Asn335Lys)
      NO genetic variant has been identified that carries a higher susceptibility to the disease.
      Higher risk than the general population Same risk as random people°
      °Although nearly 30% of the total population carries the HLA-DQ2, HLA-DQ8 or half-DQ2 molecules without developing the disease, more than 95% of celiac patients carry these molecules. Thus, if the tests reveal the absence of these two molecules, there is a 99% chance that the disease will never develop.
      °° More than 50 mutations in ALDOB causing fructose intolerance have been described, the most common being p.Ala150Pro (64%), p.Ala175Asp (16%) and p.Asn335Lys (5%). In this study, only the most frequent variants are studied c.448G> C (p.Ala150Pro, RS1800546, CM880004), c.524C> A (p.Ala175Asp, RS76917243, CM900012) and c.1005C> G (p. Asn335Lys, RS78340951, CM900014). The presence or absence of a mutation does not exclude the possibility of one or more others in unanalyzed regions of the patient gene. They may be undetectable through the technique used, so the possibility of a disease should not be excluded
  • Sensitivity and Specificity>

      The analysis of this gene is carried out using the PCR (Polymerase Chain Reaction) technique and reaction products are studied by reverse hybridization with specific sequence probes (SSOP). Moreover, the results are studied by direct sequencing and subsequent capillary electrophoresis. These molecular biology techniques are commonly used in the field of molecular genetics and exhibit high sensitivity and specificity when using specific primers for each analyzed polymorphism. The reliability of our genetic studies is close to 100%, we apply quality processes certified by competent national and international organizations.

  • Guidelines>
    • Dubé, C.,et al.; The prevalence of celiac disease in average-risk and at-risk Western European populations: a systematic review. Gastroenterology. 2005 Apr;128(4 Suppl 1):S57-67. Review. PMID: 15825128
    • Liu, E. et al.; Risk of Pediatric Celiac Disease According to HLA Haplotype and Country. N Engl J Med 2014;371:42-9. DOI: 10.1056/NEJMoa1313977
    • Trynka, G. et al.; A genetic perspective on coeliac disease. Trends in Molecular Medicine, November 2010, Vol. 16, No. 11. doi:10.1016/j.molmed.2010.09.003
    • Husby, S. et al.; European Society for Pediatric Gastroenterology, Hepatology, and Nutrition Guidelines for the Diagnosis of Coeliac Disease. PGN 􏰄 Volume 54, Number 1, January 2012
    • Vesa TH. et al.; Lactose Intolerance. Journal of the American College of Nutrition, Vol. 19, No. 2, 165S–175S (2000)
    • Mattar R. et al.; Lactose intolerance: diagnosis, genetic, and clinical factors. Clinical and Experimental Gastroenterology 2012:5 113–121
    • Online Mendelian Inheritance in Man, OMIM®. McKusick- Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), {24/04/2018}. World Wide Web URL: https://omim.org/

Any questions?

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