Genetic

Cytogenetic Testing (Chromosomal analysis)

FISH, and other more traditional cytogenic tests, allow us to diagnose structural alterations and microdilation in peripheral blood and biopsy tissues.

Genetic Studies

In our department, we perform molecular tests for different genetic illnesses:

  • Screening for cystic fibrosis mutations (thirty-three mutations plus the polymorphisms 5T/7T/9T).
  • Study of the growth responsible for Fragile X Syndrome.
  • Screening for ataxia.
  • Study of the growth of myotonic dystrophy.
  • Study of the markers of Duchenne muscular dystrophy.
  • Study of the growth of Huntington’s chorea.
  • Study of the uniparental methylation and disomy of Prader-Willi-Angelman.
  • Diagnosis of molecular hemochromatosis (MTHFR gene).

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