C9orf72 Hexanucleotide Repeat Expansion Testing


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 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.

Cost, Sample Requirements & Turnaround Times


Cost NZD

Sample requirements

Turnaround time

C9orf72 hexanucleotide repeat expansion test


4ml of whole blood in EDTA (purple top)

2 - 4 weeks
For urgent cases please contact the laboratory

*No direct charge for the central region DHBs covered by the Crown Funding Agreement

C9orf72 hexanucleotide expansion analysis


Wellington Regional Genetics Laboratory (WRGL) provides a comprehensive, integrated diagnostic cytogenetic and molecular genetic testing service

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(04) 918-5352

Please note that genetic test results are only released directly to the referring clinician and not to patients