Genetics

Cytogenetic studies (Chromosomal analysis)

Classical Cytogenetic studies as well as FISH, allow us to diagnose in peripheral blood and in biopsy tissue, structural alterations and microdeletion.

Genetic Studies

At our centre, we carry out the molecular study of different genetic illnesses:

  • Sieving ofCcystic Fibrosis mutations (33 mutations plus the polymorphisms 5T/7T/9T).
  • Study of the expansion responsible for Fragile X Syndrome.
  • Sieving of ataxy.
  • Study of the expansion of myotonic dystrophy.
  • Study of markers of Duchenne muscular dystrophy.
  • Study of the expansion of Huntington’s chorea.
  • Study of the uniparental methylation and disomy of Prarder-Willi-Angelman.
  • Diagnosis of molecular hemochromatosis (gene MTHFR).

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