Fragile X-associated Disorders
| Test Code | 4544 |
| Turnaround Time (TAT) | 7-14 days |
| Number of Genes | 1 |
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We offer family variant testing at no additional cost
for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original Ambry report date.
Order Now*excludes Secondary Findings and SNP Array tests
Mutation Detection Rate
FMR1 can detect the CGG repeat expansion with >99.9% sensitivity, when it is present (analytic sensitivity).
Test Description
Fragile X DNA Analysis includes FMR1 CGG repeat detection by a triple primed polymerase chain reaction (PCR) using a standardized kit to selectively amplify the regions of gDNA corresponding to the FMR1 promoter region followed by capillary electrophoresis for fragment size analysis. Methylation status using methylation sensitive PCR analysis (mPCR) is performed as a reflex test if PCR indicates a full mutation or a premutation (>53 repeats) allele.