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
4-6 months (from receipt of all samples and information)
Notes
- Orthogonal methods for more complex variants remain available on request.
- Where existing VCGS clinical exome data is already available, please contact our team to discuss reduced pricing for variant detection.
- For variants identified by another laboratory, detailed variant information (proband report) is required.
- Please contact us to discuss requirements for research variants.
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.