Sheffield Childrens Hospital
Address
Department of Clinical Chemistry
Western Bank
Sheffield
S10 2TH
Website:
https://www.sheffieldchildrens.nhs.uk/laboratory-medicine/clinical-chemistry/metabolic-biochemistry
Main Contact
Katherine Wright
Consultant Clinical Scientist / Head of Department
T: 0114 271 7404
E: Contact K Wright
Other Contacts
Ms. Claire Hart
Principal Clinical Scientist / Metabolic Section Lead
T: (0114) 271 7307
F: (0114) 270 6121
E: Contact Ms. Claire Hart
LABORATORY INFORMATION
Clinical Pathology Accreditation (CPA): N/A
ISO15189: Full
UKAS No.: 10139
UKAS Website: Visit UKAS website
There are currently 43 names in this directory
3-Methylcrotonyl-CoA carboxylase (3-Methylcrotonyl Glycinuria) Fibroblasts
7-Dehydrocholesterol (Smith-Lemli-Opitz syndrome) Plasma [ LithiumHeparin ] (protect sample from light)
Acyl carnitines Plasma [ LithiumHeparin ] or Dried bloodspot
Amino acids (qualitative) Urine (random plain)
Amino acids (quantitative) Plasma [ LithiumHeparin ] or Urine (random plain) or CSF
Bile acids Plasma or Urine
BiotinidasePlasma (Lithium heparin)
Carnitine Plasma [ LithiumHeparin ] or Serum
Carnitine palmitoyltransferase I (CPT1 deficiency) Fibroblasts
Carnitine palmitoyltransferase II (CPT2 deficiency) Fibroblasts
Carnitine translocase (carnitine acylcarnitine carrier deficiency) Fibroblasts
Cholestanol (CTX - Cerebrotendinous xanthomatosis) Plasma [ LithiumHeparin ]
Cystine - urine (Cystinuria monitoring)Urine (random or aliquot of 24 hr collection)
Dimethylglycine (Dimethylglycinuria) Urine plain
Ethylmalonic acid Urine plain (Random)
Fatty acid oxidation studies (functional assay for diagnosis of a range of fatty acid oxidation disorders) Cultured fibroblasts (includes VLCAD, MCAD, MAD)
Free fatty acids Plasma [ FluorideOxalate] (frozen)
Galactitol (Galactosaemia) Urine plain (random)
Glutaryl-CoA dehydrogenase (Glutaric aciduria Type 1) Fibroblasts
Glycosaminoglycans/mucopolysaccharides (MPS screen) Urine plain (Random)
Hexanoylglycine Urine plain (random)
Homocysteine -total (Homocystinuria; CBS deficiency) Plasma [ EDTA ]
Isovaleryl-CoA dehydrogenase (IVA) Fibroblasts
Isovalerylglycine -quantitativeUrine (random)
Lathosterol (Lathosterolosis) Plasma [ Lithium Heparin ]
Leucine decarboxylase Fibroblasts
Medium-chain acyl-CoA dehydrogenase (part of fatty acid oxidation studies) Fibroblasts
Multiple acyl-CoA dehydrogenase (part of fatty acid oxidation studies) Fibroblasts
Organic acids (Qualitative) Urine plain (random)
Orotic acid, orotate Urine plain (random)
Phosphoethanolamine (hypophosphatasia) Urine plain (random)
Phytanate, phytanic acid (Peroxisomal disorders) Plasma [ Lithium Heparin ]
Phytosterols (Sitosterols)Plasma (Lithium Heparin)
Pipecolate, pipecolic acid (Pyridoxine responsive seizures)Plasma (Lithium Heparin), Urine (random plain) or CSF
Plasmalogens (Peroxisomal disorders)2mls EDTA –wash RBCs in 3x equal volume of normal saline. To be received within 24-36 hrs.
Pristanic acid, pristanate (peroxisomal disorders) Plasma [ Lithium Heparin ]
Propionyl Co A carboxylase Fibroblasts
Pyruvate carboxylase (Pyruvate carboxylase deficiency) Fibroblasts
Sitosterols (Phytosterols) Plasma [ Lithium Heparin ]
Sulphocysteine (Sulphite oxidase deficiency; Molybdenum cofactor deficiency) Urine plain (random)
Trimethylamine Urine acidified (random or aliquot from 24hr collection)
Very long chain acyl-CoA dehydrogenase (part of fatty acid oxidation studies) Not specified contact lab
Very long chain fatty acids Plasma [ Lithium Heparin ]
