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