The SportGene™ from Heart Genetics is a genetic test for inherited Hypertrophic Cardiomyopathy (HCM) related with Heart and Cardiovascular Disease. This type of heart disease have an estimated worldwide prevalence of 1:500 patients compared to the + phenotype, but it is recognized that when we study the sarcomeric genes in a HCM, genotype +, up to 60% of cases have a responsible mutation for the disease, so it is estimated that the real prevalence of HCM really is closer than 1:200 people in the general population. The risk of cardiomyopathy is up to 50% in individuals with a first degree ancestry being one of the leading causes of sudden death Syndrom. It is a widely tested service as it uses the Genotyping technology iPlex MassArray equipment Thermo Scientific™.
- Analyzes 18 genes and 218 genetic variants involved with cardiac contraction including changes in mechanical level (kinetic sarcomere proteins), biochemical (calcium sensitivity) and bioenergy (activity Myosin ATPase).
- Indicated for people with personal or familial thrombotic history
- Suitable for individuals with no ancestry of Heart Disease but that are starting practice the sport activity or as a supplementary analysis for the effort test.
- Stratify individual or familial risk.
- Distinguish between HCM and athlete’s heart.
- Helps to establish preventive measures versus positive outcome such as changes in the Lifestyle.
- The test has an accuracy of 99%.
- The kit uses total peripheral blood (4 mL or 2x3mL EDTA or CITRATE tubes) or Saliva to perform genotyping in multiple chip
- Results available from 10 days with delivery at room temperature
POSSIBILITY OF EXTENDED STUDY:
- HCM Screening ™ – Complete study of HCM with 57 genes and 963 variants.
Pre and post-test comprehensive genetic counseling by our technicians with advanced specific training and facilitate informed decision-making for each patient.