Test Code 558

Fragile X Syndrome via FMR1 CGG Repeat Expansion

FMR1

1 - 2 weeks (6 - 10 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Fragile X syndrome
  • Females with primary ovarian insufficiency before age 40 years
  • Males and females with features consistent with Fragile X-associated tremor/ataxia syndrome
  • Individuals with a family history of Fragile X syndrome
Method
Repeat-Primed PCR & MS-PCR
Specimen(s)

Blood, buccal, saliva

Order Options

OTHER OPTIONS
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