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Hereditary heart diseases

elige tu test genético

What do we offer?

  • icono de laboratorioDetection of genes involved in predisposition to : Hypertrophic cardiomyopathy - Dilated cardiomyopathy - Restrictive cardiomyopathy - Arrhythmogenic cardiomyopathy - Brugada syndrome - Polymorphic Catecholaminergic Ventricular - Long QT syndrome - Short QT syndrome - Marfan syndrome - Loeys-Dietz syndrome
  • 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: 6 weeks*
  • 740 **
  • * Counting from reception of the sample at the laboratory.
    ** Shipping charges included in Spain.

elige tu test genético

Why should you request this service?

What is the purpose of this analysis?

  • To provide you all the information on the prognosis and clinical management of hereditary heart disease.

  • To indicate if you are a carrier of a mutation that predisposes to the development of certain diseases, which represents benefits at several levels: medical controls adapted to the risks, possibility of taking measures to prevent the appearance of the disease and, in the event of disease already developed, a potential therapeutic benefit.

  • To receive all information regarding the risks of transmission for your children and other members of your family.

Should you do it?

  • You are in good health but have a family history of cardiovascular disease.

    • The discovery of genetic mutations can save lives. Therefore, after identifying the genetic cause in the index case, it is very important to conduct examinations on family members who may be at risk for heart issues in order to proactively schedule a medical follow-up.

    • If you have a personal or family history of arrhythmia, cardiomyopathy, sudden death, cardiac arrest of unknown cause, aortic changes, hypercholesterolemia, pulmonary hypertension, or congenital heart disease, this type of genetic exam is strongly advised.

  • You are in good health without any family history, as part of a screening.

How does it work?

  1. elige tu test genético
    Select desired analysis and a specialist, then you have a video-consultation.
  2. frotis bucal para análisis
    Receive a sample collector kit at home that will be picked up by a courier.
  3. instrucciones de uso
    One of our partner labs makes the analysis.
  4. instrucciones de uso
    Your healthcare professional presents your results via videoconference.
go further

To go further:

Subtitles available in both English and French

additional information

  • What are the genes studied and what does it mean?

      The cardiovascular disease risk analysis uses NGS technology to study the main genes (347 genes) known today to play a role in the development of cardiovascular diseases:

      Hypertrophic cardiomyopathy
      Dilated cardiomyopathy
      Restrictive cardiomyopathy
      Arrhythmogenic cardiomyopathy
      Brugada syndrome
      Noonan Syndrome
      Polymorphic catecholaminergic ventricular tachycardia
      Long QT syndrome
      Short QT syndrome
      Fabry disease
      Marfan disease
      Loeys-Dietz syndrome
  • How to interpret the results?
      A mutation has been identified in a gene, which results in greater susceptibility to the disease. No mutation has been identified in the gene, so there is less risk that the patient will contract the disease. A genetic variant whose meaning is currently unknown has been identified.
      Increased risk Moderate risk Moderate risk but the patient must be monitored
  • Sensitivity and Specificity

      These genes are analyzed by NGS techniques in combination with conventional approaches to molecular genetics when necessary. With this analysis, it is possible to detect point mutations in exons, in deep intronic regions (up to 45bp), in the untranslated regulatory regions of breast cancer-associated genes, as well as in some structural variants. However, this examination has some limitations, it is mainly known to present a high sensitivity and specificity (> 99%) as to the variations of simple nucleotides and small indels up to 9 nucleotides. Structural variants that affect only one exon present in coding exon genes may not be detected. For the rest of the major structural variants, the detection rate can reach up to 95%.

  • Sources
    • Kathiresan S, et al. Cell. 2012;148(6):1242-1257. doi:10.1016/j.cell.2012.03.001.
    • Marcus FI, et al. Circulation. 2010;121(13):1533-41.
    • MacCarrick G, et al. Genet Med. 2014;16(8):576-87.
    • Loeys BL, et al. Journal of Medical Genetics. 2010;47(7):476-85.
    • Ackerman MJ, et al. Heart Rhythm. 2011;8(8):1308-39.
    • Priori SG, et al. Heart Rhythm. 2013;10(12):1932-63.
    • Gersh BJ, et al. Circulation. 2011;124(24):2761-96.
    • Hershberger RE, et al. J Card Fail. 2009;15(2):83-97.
    • Kallia SS, et al. Genet Med. 2017 Feb;19(2):249-255.
    • Online Mendelian Inheritance in Man, OMIM®. McKusick- Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), {24/04/2018}. World Wide Web URL:

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