The C9orf72 hexanucleotide repeat expansion has been shown to be frequent in familial amyotrophic lateral sclerosis (ALS) cases, identified at a typical frequency of 30-40%, and has also been identified in approximately 4-7% of sporadic ALS cases. It is also seen in patients with frontotemporal dementia (FTD), occurring in approximately 25% of Caucasian Europeans with familial FTD and 6% of sporadic cases in the same population.
A fluorescent repeat-primed PCR-based assay is used to determine the size of the GGGGCC repeat in the C9orf72 gene. The results of the assay can be visualised using GeneMarker software following fragment analysis on a genetic analyser. Positive and negative controls are included in each assay.
Test |
Cost NZD |
Sample requirements |
Turnaround time |
C9orf72 hexanucleotide repeat expansion test |
$231 |
4ml of whole blood in EDTA (purple top) |
2 - 4 weeks |