C9orf72 Hexanucleotide Repeat Expansion Testing

Background

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.

Testing at WRGL

A fluorescent repeat-primed PCR-based assay (AmplideX^® PCR/CE C9orf72 Kit) is used to determine the size of the GGGGCC repeat in intron 1 of 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.

Cost, Sample Requirements & Turnaround Times