Great Ormond Street Hospital
Address
Department of Chemical Pathology
Great Ormond Street
London
WC1N 3JH
Website: gosh.nhs.uk
Main Contact
Metabolic: Helen Prunty
Principal Clinical Biochemist
T: 020 7813 8319
E: Contact Helen Prunty
Other Contacts
Main BMS Contact
Derek Burke
Chief Biomedical Scientist (Enzyme Lab)
T: 020 7405 9200 x5290
E: Contact Derek Burke
LABORATORY INFORMATION
Clinical Pathology Accreditation (CPA): N/A
ISO15189: Full
UKAS No.: 8692
UKAS Website: Visit UKAS website
There are currently 18 names in this directory beginning with the letter A.
Acetyl CoA alpha-glucosaminide -N-Acetyltransferase (MPS-IIIC, Sanfilippo C) Whole blood [ LithiumHeparin ] (5ml)
Acyl carnitinesDried bloodspot
Adolase ABlood [Lithium-Heparin] or Muscle Biopsy
Aldolase B - fructose-1-phosphate aldolase (Hereditary fructose intolerance) Liver biopsy)
Alpha-fucosidase (frucosidosis) Whole blood [ LithiumHeparin ]
Alpha-galactosidase A (Fabry disease) Whole blood [ LithiumHeparin ]
Alpha-glucosidase - acid maltase (GSD Type II – Pompe disease) DBS , Whole blood (lithium-heparin) , Fibroblasts (skin biopsy)
Alpha-iduronidase (MPS Type I – Hurler or Sheie) Whole blood [ LithiumHeparin ]
Alpha-mannosidase (Alpha-mannosidosis) Whole blood [ LithiumHeparin ]
Amino acids (qualitative) Urine (random plain)
Amino acids (quantitative) Plasma [ LithiumHeparin ] or Urine (random plain) or CSF
Amylo-1,4:1,6-transglucosylase- branching enzyme (GSD Type IV) Whole blood [ LithiumHeparin ]
Amylo-1,6-glucosidase - debranching enzyme (GSD Type III) Whole blood [ LithiumHeparin ]
Arginase Whole blood [ LithiumHeparin ]
Argininosuccinate lyase (Argininosuccinate aciduria) Whole blood [ LithiumHeparin ]
Argininosuccinate synthase (Citrullinaemia type I) Liver biopsy
Arylsulphatase A -sulphatidase (Metachromatic leukodystrophy) Whole blood [ Lithium-Heparin ]
AsparaginaseWhole blood [ EDTA ]