Friedreich Ataxia (FRDA) via the FXN GAA Repeat Expansion
Use
This test is intended for individuals with relevant features who have a clinical or suspected diagnosis of Friedreich ataxia, individuals with a family history of Friedreich ataxia, as well as reproductive partners of individuals with a known pathogenic variant in the FXN gene. It aims to support the diagnosis of Friedreich ataxia, a progressive neurodegenerative disorder, by determining the GAA repeat expansion in the FXN gene, which is the most common genetic abnormality associated with the condition.
Special Instructions
New York approved. STAT testing is available and adds 25% to the price, but will not apply if the report is delivered after 16 days and the blood sample was submitted in a timely manner.
Limitations
Given the methodology employed, the test may not detect other genetic abnormalities within the FXN gene or other genes that could contribute to similar clinical manifestations. Repeat-primed PCR may not accurately quantify very large repeat expansions beyond certain limits, potentially leading to underestimation. Interpretation of the results should be performed in conjunction with clinical findings and family history.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
6-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided