This test is performed to validate a sequence variant found in the research setting or a variant was found in an external laboratory via Sanger sequencing. Familial cascade testing is also available.


Please contact us for current pricing.

Reporting time

12 weeks


P: 1300 118 247
E: [email protected]

Specimen Requirements

EDTA blood: Adult: 4 ml

Child: 1-3 ml

Saliva (via ORACollect saliva kits). Please contact our Customer Care team on 1300 118 247 if you require saliva kits.


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