Cascade & family testing
Overview
Testing of individuals for one or more variants previously identified in a family member is available. This includes predictive testing (asymptomatic individuals), parental or familial segregation^, and carrier testing.
^to establish inheritance or for diagnosis
Test method depends upon the type of variant identified in the relative (see below).
Please contact our team with any queries about these test options.
Test type
Next generation sequencing (massively parallel sequencing) NGS
Polymerase chain reaction (PCR)
Sanger sequencing
Turnaround time
3-4 months (from receipt of all samples and information)
Notes
Predictive testing
Predictive testing is available for asymptomatic individuals who are at increased risk of certain genetic conditions due to previously identified variants in a family member. Please note that patients must be referred for genetic counselling prior to arranging predictive genetic testing.
We recommend collecting two independent samples for predictive testing.