London- GOSH

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

Enzymes: Katie Harvey
Principal Clinical Biochemist
T: 020 7813 7843
E: Contact Katie Harvey

Helen Aitkenhead
Consultant Clinical Scientist (co-clinical lead)
T: 020 7813 8318
E: Contact Helen Aitkenhead

Dr Alistair Horman
Consultant Clinical Scientist (co-clinical lead)
T: 020 7813 8321
E: Contact Dr Alistair Horman

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


All | # A B C D F G H I L M N O P S T V
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 carnitines
Dried bloodspot

Adolase A
Blood [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 ]

Asparaginase
Whole blood [ EDTA ]