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National Metabolic Biochemistry Network

Edinburgh

Western General Hospitals

Address
Clinical Biochemistry
Crewe Road
Edinburgh
EH42XU

Website: https://edinburghlabmed.co.uk/TestDirectory/Pages/default

Main Contact
Dr. Leigh Campbell
Principal Clinical Scientist
T: (0131) 537 1893
E: Contact Dr. Leigh Campbell

Other Contacts

Mr Neil Squires,
Principal Clinical Scientist
T: (0131) 2426854
E: Contact Mr Neil Squires,

Main BMS Contact
Mr Gordon Marr
BMS2
T: (0131) 537 1890
E: Contact Mr Gordon Marr

LABORATORY INFORMATION

Clinical Pathology Accreditation (CPA): Full

ISO15189: Full

UKAS No.: 8699

UKAS Website: Visit UKAS website

All | # A B C D F G H L O P S
There are currently 29 names in this directory
3-Hydroxybutyrate
Plasma [ Fluoride Oxalate or Lithium Heparin ]
Alpha-fucosidase (frucosidosis)
Whole blood [ EDTA ] or Fibroblasts (2x 25cm flask)
Alpha-galactosidase A (Fabry disease)
Whole blood [ EDTA ] or Fibroblasts (2x 25cm flask)
Alpha-glucosidase - acid maltase (GSD Type II – Pompe disease)
Whole blood [ EDTA ] or Fibroblasts (1x 25cm flask)
Alpha-iduronidase (MPS Type I – Hurler or Sheie)
contact lab
Alpha-mannosidase (Alpha-mannosidosis)
Whole blood [ EDTA ] or Fibroblasts (1x 25cm flask)
Amino acids (quantitative)
Plasma [ LithiumHeparin ] or Urine (random plain) or CSF
Arylsulphatase A -sulphatidase (Metachromatic leukodystrophy)
Whole blood [ EDTA ] or Fibroblasts (2x 25cm flask)
Beta-galactosidase (MPS Type IVB)
Whole blood [ EDTA ] or Fibroblasts (1x 25cm flask)
Beta-glucosidase – glucocerebrosidase (Gaucher disease)
Whole blood [ EDTA ] or Fibroblasts (1x 25cm flask)
Beta-glucuronidase (MPS Type VII)
Whole blood [ EDTA ] or Fibroblasts (1x 25cm flask)
Beta-mannosidase (Beta-mannosidosis)
Whole blood [ EDTA ] or Fibroblasts (1x 25cm flask)
Biotinidase
Plasma [ LithiumHeparin ]
Cystine - urine (Cystinuria monitoring)
Early morning random
Disaccharidases -lactase,sucrase-isomaltase (Lactase deficiency)
Duodenal biopsy (Send frozen, sample must be stored at 80oC before sending)
Free fatty acids
Plasma [ Fluoride-Oxalate ]
Galactose-1-phosphate uridyltransferase (Galactosaemia diagnosis)
Whole blood [ Lithium Heparin ]
Galactosylceramidase -beta galactocerebrosidase (Krabbe disease)
Fibroblasts (1x 25cm flask) or Whole blood [ EDTA ]
Glycosaminoglycans/mucopolysaccharides (MPS screen)
Urine plain (Random)
Hexosaminidase A (GM2-gangliosidosis Type 1; Tay-Sachs disease)
Whole Blood [ EDTA ] or Fibroblasts (1x 25cm)
Hexosaminidase A and B (GM2-gangliosidosis Type 2; Sandhoff disease)
Whole Blood [ EDTA ] or Fibroblasts (1x 25cm)
Homocysteine -total (Homocystinuria; CBS deficiency)
Plasma [ Lithium Heparin or EDTA ]
Lysosomal acid lipase (Wolman disease/Cholesteryl ester storage disease)
Whole Blood [ EDTA ] or Fibroblasts (1x 25cm)
Organic acids (Qualitative)
Urine plain (random)
Orotic acid, orotate
Urine plain (random)
Phenylalanine/tyrosine (Phenylketonuria monitoring)
Plasma [ Lithium Heparin ]
Phosphoethanolamine (hypophosphatasia)
Urine plain (random) or Plasma [ Lithium Heparin ]
Plasma lysosomal enzymes (Mucolipidosis II (I-cell disease); mucolipidosis type III (pseudo-Hurler dystrophy))
Plasma [ Lithium Heparin or EDTA ]
Sphingomyelinase (Niemann-Pick disease types A +B)
Whole blood [ EDTA ] or Fibroblasts