Fragile X syndrome

Pathogenic repeat expansion analyses focus on trinucleotide (CGG) repeat expansions within the 5′ untranslated region of the FMR1 gene, which is the most common cause of Fragile X Syndrome. Repeat expansions in the premutation size range are the only known cause of Fragile X-associated tremor/ataxia syndrome and Fragile X-associated primary ovarian insufficiency. Analyzing repeat expansions in the FMR1 gene can help confirm clinical diagnoses, predict disease prognosis and progression, facilitate early symptom detection, and inform family planning and genetic counseling. Candidates for FMR1 testing include males with intellectual disabilities and individuals with a family history of Fragile X syndrome or unexplained intellectual disabilities. Testing is also recommended for males with symptoms of Fragile X tremor/ataxia syndrome (after ruling out pathogenic SCA gene variations) and females with Premature Ovarian Failure. Carrier testing is available, but we do not accept prenatal specimens for Fragile X testing.

5-7 weeks

NGS

EDTA Blood ,DNA

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