C9orf72 Gene Hexanucleotide Repeat Expansion
Use
This test is intended for individuals with a clinical or suspected diagnosis of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD), as well as those with a family history of ALS or FTD. It aids in the diagnosis of these neurological conditions by identifying hexanucleotide repeat expansions in the C9orf72 gene.
Special Instructions
New York approved. STAT testing is available, adding a 25% surcharge to the price unless the report is delivered after 16 days with a blood sample.
Limitations
The test focuses on identifying hexanucleotide repeat expansions in the C9orf72 gene. It may not detect smaller repeat expansions or other genetic variants that could contribute to ALS or FTD. Other genetic or environmental factors may also play a role in these conditions.
New York Approved
Methodology
PCR-based (Repeat-Primed PCR & Fragment Length)
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