Prenatal Fragile X Syndrome (FMR1 repeat analysis)
Use
This test enables prenatal diagnosis of Fragile X Syndrome by determining the CGG repeat size and methylation status of the FMR1 gene in fetal samples (e.g., amniotic fluid, chorionic villus sampling). It assists in early detection of full mutations (>200 CGG repeats) that result in Fragile X Syndrome, providing critical information for parental counseling and pregnancy management.
Special Instructions
Not provided.
Limitations
PCR may detect CGG repeat expansions up to a certain size, but full mutations and methylation status often require Southern blot confirmation. Mosaicism or borderline repeat sizes may reduce diagnostic clarity. Prenatal samples may have technical artifacts affecting methylation interpretation.
Methodology
PCR-based (PCR)
Biomarkers
Methylation status
OtherNo genes
Gene
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
Not provided
Minimum Volume
Not provided
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