DNA SEQUENCING – NGS (Germline SNVs and indels)
Applicable to any labs using NGS as part of their germline testing process.
DNA SEQUENCING – NGS (Germline) CNV testing
Applicable to any labs using NGS as part of their germline CNV testing process. Pilot EQA Scheme.
Hereditary Hearing Loss
Applicable to all labs undertaking molecular genetic testing for this disorder.
Charcot-Marie-Tooth disease / Hereditary Neuropathy with liability for Pressure Palsies (CMT/HNPP) (PMP22 and optional gene panel testing for other CMT-associated genes).
Applicable to all labs undertaking molecular genetic testing for these disorders.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) and optional gene panel testing for hereditary cystic kidney disease
Applicable to all labs undertaking molecular genetic testing for this disorder.
Cardiac Genetics Gene Panel: Arrhythmias
Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)
