The National Referral Laboratory for Lysosomal, Peroxisomal and Related Genetic Disorders offers a world-class diagnostic service for a wide range of inherited disorders. The major diagnostic focus is on the lysosomal storage disorders and the peroxisomal disorders, with this analysis strengthened by the related high quality research carried out in the Department of Chemical Pathology. Through interactions with Dr Janice Fletcher (Head, Metabolic Unit) and with the personnel in the Metabolic and Therapeutics Programme and the Neonatal Screening Programme, we provide an integrated and comprehensive analysis of a wide range of metabolic disorders. In addition to performing post-natal testing, we also offer a reliable prenatal diagnostic service for the majority of diseases tested in the laboratory. The laboratory also performs molecular analysis including mutation search studies for three X-linked disorders (Adrenoleucodystrophy, Mucopolysaccharidosis type II (Hunter syndrome) and Fabry disease) and a number of other mucopolysaccharidoses, as well as mutation screening for various autosomal recessive disorders. Laboratory Accreditation and QC Affiliations The National Referral Laboratory, as part of the Department of Chemical Pathology, currently holds accreditation as a testing laboratory with the National Association of Testing Authorities (NATA). Our carrier testing for Tay-Sachs disease and Sandhoff disease is approved by the International Tay-Sachs Disease Testing Quality Control and Data Collection Center.