C9orf72 Genetic Testing (Repeat Expansion)
Use
Varients in the C9orf72 gene have been found to cause amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, a loss of muscle mass, and an inability to control movement.
Special Instructions
This assay is not available in New York state and is developed by Labcorp without FDA clearance. Specimens include whole blood, oral swab, and extracted DNA, with specific collection instructions for each type. For extracted DNA, contact MNG Genetic Services for guidance.
Limitations
The test may yield false positive or false negative results due to factors such as limited knowledge on rare variants, allele dropout, blood transfusions, bone marrow transplantation, or somatic/tissue-specific mosaicism. Maximum measurable repeat expansions are defined for multiple genes, and sizes beyond the maximum are reported as 'greater than'.
Methodology
PCR-based (Fragment Length Analysis)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
Other tests from different labs that may be relevant