NGS for germline CNVs pilot
EQA for quality of NGS for CNVs >50bp (Germline DNA). For whole exome or genome sequencing. Pilot EQA Scheme.
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).
Prader-Willi and Angelman Syndromes (PW / AS)
Methylation and copy number analysis for Prader-Willi and Angelman Syndromes (PW / AS) (Germline DNA)
Retinoblastoma (RB)
RB1 testing for patients with retinoblastoma and familial cases.
Rare Neurological Disease (RND) Gene Panel
NGS gene panel testing for Rare Neurological Diseases (Germline DNA) (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)