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.
Turnaround time 4-6 weeks.
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.