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