This site uses both its own cookies and third-party cookies in order to obtain statistical data on the browsing activity of its users. You accept these cookies by continuing to browse the Portal or by clicking ACCEPT You can find information on how to enable/disable browser cookies reading our Cookie Policy

This site uses both its own cookies and third-party cookies (files which are installed on the user’s device and which record browsing information) in order to obtain statistical data on the browsing activity of its users. By clicking ACCEPT or by continuing to browse the Portal, you accept that PROMETUM SPAIN S.L.U. may store and use these cookies. To find out more, please read our Cookie Policy where you can also find information on how to enable/disable browser cookies. ACCEPT

You will receive an e-mail with instructions to reset your password
Home Fructose
icono intolerancia-alimentaria.png

Fructose

What do we offer?

  • icono de laboratorioDetection of genes involved in predisposition to : Intolerance to 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*
  • 230 **
  • * 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?

>
  • To detect a possible fructose intolerance. 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?

>
  • 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
      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
      ALDOB* gene:
      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°
      *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>
    • 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?

In compliance with the requirements of REGULATION (EU) 2016 / 679 OF THE EUROPEAN PARLIAMENT AND OF THE COUNCIL of 27 april 2016 on the protection of individuals with regard to the processing of personal data and the free movement of such data and repealing directive 95 / 46 / ec (general regulation of data protection), you are informed that ...