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National Metabolic Biochemistry Network

Cardiff

University Hospital of Wales

Address
Department of Medical Biochemistry
Heath Park
Cardiff
CF14 4XW

Website: https://cavuhb.nhs.wales/our-services/laboratory-medicine/medical-biochemistry-and-immunology/

Main Contact
Professor Stuart Moat
Consultant Biochemist & Director - Wales Newborn Screening Laboratory
T: 029 218 43562
E: Contact Dr. Stuart Moat

Other Contacts

Dr Duncan Cole
Consultant in Medical Biochemistry & Metabolic Medicine
T: 029 218 48359
E: Contact Dr Cole

Dr Fiona Stratford
Principal Clinical Scientist
T: 029 218 45448
E: Contact Dr Stratford

Porphyria service

Clinical Advice
Dr Danja Schulenburg-Brand
Consultant in Medical Biochemistry & Metabolic Medicine
T: 029 218 46588
E: Contact Dr Schulenburg-Brand

Dr Fiona Stratford
P

Porphyria Laboratory Enquiries
Ms Lucy Bentley
Senior Biomedical Scientist
T: 029 218 43565
E: Contact Lucy Bentley

LABORATORY INFORMATION

Clinical Pathology Accreditation (CPA): Full

ISO15189: Full

UKAS No.: 8989

UKAS Website: Visit UKAS website

All | # A B C F G H M N O P
There are currently 19 names in this directory
3-Hydroxybutyrate
Plasma [ EDTA or Fluoride-Oxalate ]
5-Aminolaevulinic acid (Porphyria)
Urine (Early morning random urine in plain container protected from light)
Acyl carnitines
Dried bloodspot
Amino acids (qualitative)
Urine (random plain)
Amino acids (quantitative)
Plasma [ LithiumHeparin ] or Urine (random plain) or CSF (collected with a plasma sample)
Biotinidase
Plasma [ LithiumHeparin ]
Cystine - urine (Cystinuria monitoring)
Urine (Random acidified or 24hr collection acidified)
Free fatty acids
Plasma [ EDTA ]
Galactose-1-phosphate uridyltransferase (Galactosaemia diagnosis)
Whole blood [ Lithium Heparin ]
Glycosaminoglycans/mucopolysaccharides (MPS screen)
Urine plain (Random)
Homocysteine -total (Homocystinuria; CBS deficiency)
Plasma [ EDTA ]
Methylmalonate (Methylmalonic Acid)
Plasma [ Lithium-Heparin ] or Urine (Random)
Non-esterified Fatty Acids (NEFA)
Plasma [ EDTA or Fluoride-Oxalate ]
Organic acids (Qualitative)
Urine plain (random)
Oxalate
Urine acidified (random or 24hr collection)
Phenylalanine/tyrosine (Phenylketonuria monitoring)
Plasma [ Lithium Heparin ] or Dried Bloodspot
Phosphoethanolamine (hypophosphatasia)
Urine plain (random)
Porphobilinogen (Porphyria)
Urine (Early morning urine during acute attack, protected from light and kept in plain container)
Porphyrins (Porphyria)
Urine (Early morning urine during acute attack, protected from light and kept in plain container) +/ Whole blood [ EDTA ] (protected from light and immediately sent to lab) +/ Faeces (Plain universal tube, protect from light, 510g for adults 0.5g for children)