University Hospitals of Bristol and Weston NHS Foundation Trust
![](data:image/gif;base64,R0lGODlhAQABAAAAACH5BAEKAAEALAAAAAABAAEAAAICTAEAOw==)
Address
Metabolic, Neuroendocrine and Nutrition Laboratory
Department of Clinical Biochemistry
Bristol Royal Infirmary
Bristol
BS2 8HW
Website click Here
Main Contact
Dr Vicki Warburton
Consultant Paediatric and Metabolic Clinical Scientist
T: 01173421299
E: Contact Dr Vicki Warburton
Other Contacts
Mrs Becky Hopkins
Principal Paediatric and Metabolic Clinical Scientist
T: 01173421299
E: Contact Mrs Becky Hopkins
LABORATORY INFORMATION
Clinical Pathology Accreditation (CPA): None
ISO15189: Full
UKAS No.: 8061
UKAS Website: Visit UKAS website
There are currently 32 names in this directory
Alpha-fucosidase (fucosidosis) Whole blood [ EDTA ] (arrive within 24hr of collection)
Alpha-galactosidase A (Fabry disease) Whole blood [ EDTA ]
Alpha-iduronidase (MPS Type I – Hurler or Sheie) Whole blood [ EDTA ]
Alpha-mannosidase (Alpha-mannosidosis) Whole blood [ EDTA ]
Amino acids (quantitative) Plasma [ LithiumHeparin or EDTA ] or Urine (random plain) or CSF
Arylsulphatase A -sulphatidase (Metachromatic leukodystrophy) Whole blood [ EDTA ]
Beta-galactosidase (MPS Type IVB) Whole blood [ EDTA ]
Beta-glucosidase – glucocerebrosidase (Gaucher disease) Whole blood [ EDTA ]
Beta-glucuronidase (MPS Type VII) Whole blood [ EDTA ]
Beta-mannosidase (Beta-mannosidosis) Whole blood [ EDTA ]
Biotinidase Plasma [ EDTA ] (separated and frozen within 6hrs of collection, send frozen)
Cardiolipin (Barth syndrome) Dried bloodspot or Whole blood [ EDTA ] (send to lab within 24hrs of collection)
Chitotriosidase (Gaucher disease) Plasma [ EDTA ]
Cystine - urine (Cystinuria monitoring) Random
Disaccharidases -lactase,sucrase-isomaltase (Lactase deficiency) Duodenal biopsy (Send frozen, sample must be stored at 80oC before sending)
Galactosylceramidase -beta galactocerebrosidase (Krabbe disease) Whole blood [ EDTA ]
Glycosaminoglycans/mucopolysaccharides (MPS screen) Urine plain (Random)
Heparan N-sulphatase (MPS Type IIIA) Whole blood [ EDTA ]
Hexosaminidase A (GM2-gangliosidosis Type 1; Tay-Sachs disease) Whole Blood [ EDTA ]
Hexosaminidase A and B (GM2-gangliosidosis Type 2; Sandhoff disease) Whole Blood [ EDTA ]
Homocysteine -total (Homocystinuria; CBS deficiency) Plasma [ EDTA ] (sent on ice and separated within 30minutes)
Iduronate sulphatase (MPS Type II; Hunter) Plasma [ EDTA ]
Multiple sulphatases (Multiple sulphatase deficiency) Whole Blood [ EDTA ]
N-Acetyl-alpha-glucosaminidase (MPS IIIB, Sanfillipo B syndrome) Plasma [ Lithium Heparin or EDTA ]
N-Acetylgalactosamine-4-sulphatase (MPS VI, Maroteaux-Lamy syndrome) Whole blood [ EDTA ]
N-Acetylgalactosaminidase (Schindler disease) Whole blood [ EDTA ]
Organic acids (Qualitative) Urine plain (random)
Palmitoyl protein thioesterase (Neuronal ceroid lipofuscinosis 1) Whole blood [ EDTA ] or Fibroblasts
Phenylalanine/tyrosine (Phenylketonuria monitoring) Plasma [ Lithium Heparin ] (separated promptly and frozen done as part of Amino acid profile)
Plasma lysosomal enzymes (Mucolipidosis II (I-cell disease); mucolipidosis type III (pseudo-Hurler dystrophy)) Plasma [ EDTA ]
Sphingomyelinase (Niemann-Pick disease types A +B) Whole blood [ EDTA ]
Tripeptidyl peptidase I (Neuronal ceroid lipofuscinosis 2) Whole blood [ EDTA ] or Fibroblasts