C9orf72 GGGGCC Repeat Expansion
| Purpose: |
To detect expansion of a hexanucleotide GGGGCC repeat in the Chromosome 9 open reading frame 72 (C9ORF72) gene The expansion of a hexanucleotide GGGGCC repeat in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This test detects the C9ORF72 expansion mutation in approximately 37% of familial ALS and 25% of familial FTD patients. |
| CPT Codes: | 81479 |
| Methodology: | Capillary Electrophoresis |
| Turnaround Time: | 14 days |
| Specimen: | Blood |
| Forms: | 1. Requisition Form 2. Informed Consent Form – C9orf72 Testing |