Fragile X, Follow-up Analysis
Use
The test is useful for confirming the methylation status of the repeat expansion allele in the FMR1 gene. This confirmation aids in diagnosing FMR1-related disorders such as Fragile X Syndrome, Fragile X Tremor/Ataxia Syndrome, and Primary Ovarian Insufficiency.
Special Instructions
Not provided.
Limitations
The test may not reliably predict disease severity for prenatal assessment due to variable expression and incomplete penetrance of the FMR1 expansion. Less than 1% of clinically diagnosed fragile X syndrome cases may have a different FMR1 gene alteration other than CGG expansion. Methylation status assessment is not performed on chorionic villus specimens or if the reported sex is female.
New York Approved
Methodology
PCR-based (Methylation Sensitive)
Biomarkers
FMR1
Gene
LOINC Codes
- 48767-8 - Annotation comment Imp
- 31208-2 - Specimen source
- 18771-6 - Provider signing name
Result Turnaround Time
8-10 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Lab will utilize existing specimen in the lab.