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Fragile X syndrome genotyping

Indications: - fragile X syndrome Specimen: 1) whole blood (ACD or EDTA) 2) amniocytes 3) store at 4 degrees C if nucleic acids cannot be extracted immediately Clinical significance: - most common mutation is a CGG trinucleotide repeat expansion 5' to the FMR-1 coding sequence

Related

FMR-1 gene fragile X syndrome

General

genotyping (allele testing)

References

  1. Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed., W.B. Saunders, 1995
  2. ARUP Consult: Fragile X Syndrome https://arupconsult.com/ati/fragile-x-syndrome