Customised variant genetic testing

Diagnostic Use

This test encompasses the following types of tests:

•custom mutation-specific carrier or pre-symptomatic testing (cascade screening)
•custom prenatal diagnosis
•confirmation of mutations identified in a research lab
Testing for a previously identified mutation can be performed at CHL, which is usually quicker and cheaper than sending to the laboratory which first identified the mutation in the proband patient.


Genetics - Molecular Pathology

Delphic Registration Code



Cascade screen
Predictive testing
Prenatal testing