SANGER

EQA for quality of Sanger sequencing (PCR products and primers provided)

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).

Neuromuscular Disorders

Dystrophin gene and panel testing for Rare Neuromuscular Disorders (NMD) (germline DNA). This EQA has options for targeted DMD / BMD testing and/or NMD panel testing.