NGS for germline CNVs pilot
EQA for quality of NGS for CNVs >50bp (Germline DNA). For whole exome or genome sequencing. Pilot EQA Scheme.
NGS for germline SNVs and indels
EQA for quality of NGS for SNVs and indels <50bp (Germline DNA). For any NGS strategy (single gene, panel testing, whole exome sequencing or whole genome sequencing).
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 Hearing Loss
Testing for Hereditary Hearing Loss. This EQA has options for panel testing and targeted DFNB1 (GJB2 and GJB6) testing
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).