Mitochondrial DNA disorders
Testing for variants in the mitochondrial genome for the following mitochondrial disorders: MELAS, NARP, LHON, MERRF, Leigh syndrome, and Pearson syndrome.
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)
Porphyrias
Molecular genetic testing for patients with porphyria and familial cases (group of eight disorders of the heme biosynthesis pathway, as defined by Ipnet).