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.
Osteogenesis imperfecta (OI)
COL1A1 and COL1A2 testing for patients with osteogenesis imperfecta and familial cases.
Postnatal Constitutional CNV Detection
Postnatal Constitutional CNV Detection using array based, or NGS approaches (Germline DNA).
Phenylketonuria (PKU)
PAH testing for Phenylketonuria (PKU) (Germline DNA)