University Hospitals of Bristol and Weston NHS Foundation Trust
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
