Fragile X syndrome genotyping

Indications

• fragile X syndrome

Clinical significance

• most common mutation is a CGG trinucleotide repeat expansion 5' to the FMR-1 coding sequence

Specimen

• whole blood (ACD or EDTA)
• amniocytes
• store at 4 degrees C if nucleic acids cannot be extracted immediately

More general terms

• genotyping (allele testing)

Additional terms

• FMR-1 gene
• fragile X syndrome