METABOLIC TEST REPERTOIRE
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1 METABOLIC TEST REPERTOIRE Department of Medical Biochemistry and Immunology University Hospital of Wales Heath Park Cardiff CF14 4XW Metabolic section open Monday to Friday 08:45 to 17:15 For Laboratory general enquiries Tel: Contact: Heather Wheatley (Senior Biomedical Scientist) For clinical advice contact: Dr Stuart J Moat (Consultant Biochemist & Director - Wales Newborn Screening Laboratory) Stuart.Moat@wales.nhs.uk Tel Dr Duncan Cole (Consultant in Medical Biochemistry and Metabolic Medicine) Duncan.Cole@wales.nhs.uk Tel: FOR URGENT REQUESTS PLEASE CONTACT THE LABORATORY s will be processed as soon as it is feasible to do so. It may be possible to process small sample volumes but advisable to contact laboratory for advice. Please provide clinical details, particularly current patient medication, and collection times of sample on all request forms. Revision: 12 Date: 06/08/18 Page 1 of 5
2 Metabolic tests: Acylcarnitines Blood spot Guthrie card Handling/ Room LC MS/MS working days) Revision: 12 Date: 06/08/18 Page 2 of 5 10 CDC Atlanta and ERNDIM Inborn errors of metabolism Biotinidase 1ml plasma -20 o C Enzymatic U/L 15 exchange Biotinidase deficiency Glycosaminoglycans 5ml fresh urine -20 o ERNDIM MPS and C Colourimetric contact lab 20 (GAG Screen) Willink Mucopolysaccharide disorders Glycosaminoglycan 5ml fresh urine -20 o ERNDIM C Electrophoresis contact lab 30 Electrophoresis Proficiency Scheme Mucopolysaccharide disorders Homocysteine Methylmalonic acid (Plasma) Methylmalonic Acid (Urine) Non-esterified Fatty acids (NEFAs) 3-Hydroxybutyrate 0.5ml plasma EDTA 1ml plasma 3-5ml urine 1ml fluoride oxalate or EDTA plasma Separate within 30 mins of collection; Store -20 o C and send first class post Room Room CMIA 0-16 μmol/l o C Enzymatic Organic Acids 3-5ml Urine -20 o C μmol/L mmol/mol creat (blood glucose result at time of collection required) U.K.NS Sheffield and ERNDIM UKNS Holotranscobalamin UKNS Holotranscobalamin Homocystinuria/Cardiovascular Vitamin B12 deficiency Vitamin B12 deficiency 20 ERNDIM SAS hypoglycaemia 10 ERNDIM Sheffield Inborn errors of metabolism
3 Very long chain fatty acids (VLCFA), including pristanic acid and phytanic acid Sweat Test 1ml plasma Appointments by arrangement Handling/ Store frozen until dispatch - Gibson and Cooke QPIT C26: mol/l C26/C22: C24/C22: Pristanic acid and phytanic acid are also included, with age-related reference ranges. A full interpretative is. Contact lab working days) 30 ERNDIM SAS Reports available same day U.K.NS Birmingham peroxisomal disorders Cystic fibrosis Revision: 12 Date: 06/08/18 Page 3 of 5
4 Renal Stones: Urine Oxalate Urine Citrate Urine Oxalate/Creatinine ratio Urine Citrate/Creatinine ratio 20ml from 24hr acid collection 20ml from 24hr plain/acid collection 5ml random urine 5ml random urine Handling / working days) Revision: 12 Date: 06/08/18 Page 4 of 5
5 Special chemistry Faecal Calprotectin Faecal Elastase Plasma Vitamins A and E Xanthochromia 1-5g Faeces 3g Faeces 2ml plasma 200μl CSF Handling / room room protect from light, -20 o C protect from light, -20 o C Enzyme Immunoassay working days) <50μg/g 10 U.K.NS Elisa contact lab 10 U.K.NS HPLC contact lab 10 U.K.NS Spectrophotometric scan contact lab 1 U.K.NS Sheffield Ulcerative colitis/crohn's Pancreatic exocrine dysfunction Nutritional Assessment SAH Prices on application Revision: 12 Date: 06/08/18 Page 5 of 5
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