Neurometabolic Unit
Address BOX 105, Basement Albany Wing National Hospital for Neurology and Neurosurgery Queen Square London WC1N 3BG
Website: https://www.uclh.nhs.uk/our-services/find-service/neurology-and-neurosurgery/neurometabolic-unit
Main Contact Prof Simon Heales Laboratory Director / Consultant Clinical Scientist T: 0207 813 8321 F: 0207 829 8782 E: Contact Prof Simon Heales
Other Contacts
Dr. Amanda Lam Deputy Laboratory Director / Principal Clinical Scientist T: 0203 448 3818 / 0203 448 3844 F: 0207 829 8782 E: Contact Dr. Amanda Lam
Main BMS Contact Mr. Nana Ghansah Laboratory Manager T: 0203 448 3819 / 0203 448 3844 F: 0207 829 8782 E: Contact Mr. Nana Ghansah
LABORATORY INFORMATION
Clinical Pathology Accreditation (CPA): N/A
ISO15189: Full
UKAS No.: 8341
UKAS Website: Visit UKAS website
There are currently 16 names in this directory
5-Methyltetrahydrofolate (MTHFR) CSF
Acyl carnitines Plasma [ LithiumHeparin ]
Amino acids (quantitative) Plasma [ LithiumHeparin ] or CSF
Carnitine Plasma [ LithiumHeparin ] or Serum
Carnitine palmitoyltransferase I (CPT1 deficiency) Muscle biopsy (flash frozen at bedside)
Carnitine palmitoyltransferase II (CPT2 deficiency) Muscle biopsy (flash frozen at bedside)
Desmosterol Plasma [ LithiumHeparin ]
Homocysteine -total (Homocystinuria; CBS deficiency) Plasma [ Lithium Heparin or EDTA ]
Pyridoxal phosphate (Pyridox(am)ine 5'-phosphate oxidase deficiency) CSF
Respiratory chain complex I - V Muscle (50100mg flash frozen at bedside)
Ubiquinone / coenzyme Q10 / CoQ10 (Ubiquinone) Muscle (50100mg flash frozen at bedside)
Very long chain acyl-CoA dehydrogenase Muscle (50100mg flash frozen at bedside)