Hereditary Breast and Ovarian Cancer (HBOC) (Germline)
BRCA1/BRCA2 or panel testing for hereditary breast and ovarian cancer (HBOC) (Germline DNA), this EQA has options for targeted or panel testing
Hereditary Cystic Kidney Disease (ADPKD)
PKD1 / PKD2 and panel testing for patients with Hereditary Cystic Kidney Disease. This EQA has options for targeted testing and panel testing (germline DNA testing).
Hereditary Amyloidosis
TTR gene testing for Hereditary Amyloidosis (germline DNA testing) and optional testing for other Hereditary Amyloidosis genes
Cardiac Disorders
Panel testing for Cardiac disorders (targeted NGS/ virtual panel /clinical exome / WES / WGS). This EQA has options for Arrythmia panel, Hypertrophic Cardiomyopathy panel, and all Cardiac Disorders.
Charcot-Marie-Tooth disease / Hereditary Neuropathy with liability for Pressure Palsies (CMT/HNPP)
PMP22 deletion/duplication testing for CMT/HNPP, this EQA has options for PMP22 targeted testing and panel testing for CMT/HNPP associated genes (Germline DNA).