Hereditary Hearing Loss
Testing for Hereditary Hearing Loss. This EQA has options for panel testing and targeted DFNB1 (GJB2 and GJB6) testing
Hereditary Renal / Kidney Cancer (VHL)
Testing for Hereditary Renal / Kidney Cancer. This EQA has options for targeted VHL testing or gene panel testing of hereditary renal cancer disorders (Germline DNA)
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).