Molecular Diagnostics

Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante's syndrome (FMR-1)

English translation is under construction

Genetic analysis

  • A short family history must be taken. Any information regarding the patient's family history is important and quickens the analysis completion.
  • 2 x 3ml of peripheral blood in EDTA anticoagulant are required. The sample is either sent to BioGenomica laboratory on the same day the blood is being drawn, or can be stored for a longer time period in the freezer (-20 °C) until its postage. (Contant us for more information regarding postage details).
  • Genetic reports are handed to the attending physician in less than four (4) calendar weeks.