This testing is performed by fragment analysis of the C9orf72 hexanucleotide repeat expansion. Analysis of sequence variants in the C9orf72 gene is available via exome or genome sequencing with the dementia gene panel.



Reporting time

Turnaround time 8 weeks.


P: 1300 118 247
E: [email protected]

Specimen Requirements

EDTA blood:

1 x 5ml


Patient to be referred to a neurologist for diagnostic tests and to a genetics clinic for carrier/prenatal testing.

Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.

Genes tested