Birmingham - MetBio.net

Birmingham Childrens Hospital NHS Trust

Address
Newborn Screening & Biochemical Genetics
Birmingham Children’s Hospital
Steelhouse Lane
Birmingham
West Midlands
B4 6NH

Website: https://bwc.nhs.uk/our-pathology-services

Main Contact
Dr Adam Gerrard
Consultant Clinical Scientist
T: (0121) 333 9903
E: Contact Dr Adam Gerrard

Other Contacts

Dr. Christopher Stockdale
Principal Clinical Scientist
T: (0121) 333 9940
E: Contact Dr. Christopher Stockdale

LABORATORY INFORMATION

Clinical Pathology Accreditation (CPA): N/A

ISO15189: Full

UKAS No.: 9948

UKAS Website: Visit UKAS website

All | # A B C D F G H L M N O P R S T V

There are currently 58 names in this directory

3-Hydroxybutyrate

Plasma [ 0.5ml FluorideOxalate ]

7-Dehydrocholesterol (Smith-Lemli-Opitz syndrome)

Plasma [ LithiumHeparin ] or serum

Acyl carnitines

Plasma or Dried bloodspot or bile

Alpha-fucosidase (frucosidosis)

Plasma [ LithiumHeparin ] or Whole blood [ EDTA ] or Fibroblasts (1x 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-mannosidase (Alpha-mannosidosis)

Whole blood [ EDTA ] or Fibroblasts (1x 25cm flask) or Serum

Amino acids (qualitative)

Urine

Amino acids (quantitative)

Plasma [ LithiumHeparin ] or Urine (random plain) or CSF

Arylsulphatase A -sulphatidase (Metachromatic leukodystrophy)

Whole blood [ EDTA ] or Fibroblasts (1x 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)

Biopterin

Whole blood [ LithiumHeparin or EDTA ]

Biotinidase

Whole blood [ LithiumHeparin ]

Carnitine

Plasma [ LithiumHeparin ] or Urine

Chitotriosidase (Gaucher disease)

Plasma [ LithiumHeparin ]

Cystine

Urine plain (random)

Cystine in white blood cells (Cystinosis)

Whole blood [ LithiumHeparin ]

Dihydropteridine reductase (Dihydropteridine reductase deficiency)

Whole blood [ LithiumHeparin ]

Disaccharidases -lactase,sucrase-isomaltase (Lactase deficiency)

Duodenal biopsy (Send frozen, sample must be stored at 80oC before sending)

Free fatty acids

Plasma [ FluorideOxalate]

Fructose-1,6-bisphosphatase (Fructose-1,6-bisphosphatase deficiency)

Whole blood [ EDTA ] or Liver biopsy

Fumarylacetoacetase (Tyrosinaemia Type 1)

Cultured fibroblasts (1x 25cm Flask) or Liver Biopsy

Galactose-1-phosphate (Galactosaemia monitoring)

Whole blood [ Lithium Heparin ]

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)

Serum or Whole Blood [ EDTA ] or Fibroblasts (1x 25cm)

Hexosaminidase A and B (GM2-gangliosidosis Type 2; Sandhoff disease)

Serum or Whole Blood [ EDTA ] or Fibroblasts (1x 25cm)

Lysosomal acid lipase (Wolman disease/Cholesteryl ester storage disease)

Whole Blood [ EDTA ] or Fibroblasts (1x 25cm)

Methylmalonic acid – Quantitative (GCMS)

Plasma

N-Acetylgalactosaminidase (Schindler disease)

Whole blood [ EDTA ] or Fibroblasts

N-Aspartyl-beta-glucosaminidase (Aspartylglucosaminuria)

Plasma or Serum

Nitisinone – NTBC by HPLC-MSMS

Plasma or Serum

Oligosaccharides

Urine plain (random)

Organic acids (Qualitative)

Urine plain (random)

Orotic acid, orotate

Urine plain (random)

Oxalate

Urine acidified (random)

Oxalate (Primary Hyperoxaluria)

plasma [ EDTA ] (separated and frozen within 30 minutes of collection)

Palmitoyl protein thioesterase (Neuronal ceroid lipofuscinosis 1)

Whole blood [ EDTA ] or Fibroblasts

Phenylalanine/tyrosine (Phenylketonuria monitoring)

Whole blood [ Lithium Heparin ]

Phosphoethanolamine (hypophosphatasia)

Urine plain (random)

Phytanate, phytanic acid (Peroxisomal disorders)

Whole blood [ Lithium Heparin or EDTA or FluorideOxalate ]

Plasma lysosomal enzymes (Mucolipidosis II (I-cell disease); mucolipidosis type III (pseudo-Hurler dystrophy))

Plasma [ Lithium Heparin ]

Pristanic acid, pristanate (peroxisomal disorders)

Whole blood [ Lithium Heparin or EDTA or FluorideOxalate ]

Pterins by HPLC

Bloodspots (collected while phe is elevated)

Reducing substances (Colourimetric)

Urine or Faeces

Sialic acid

Urine plain (random)

Sialyl-oligosaccharides

Urine plain (random)

Sphingomyelinase (Niemann-Pick disease types A +B)

Whole blood [ EDTA ] or Fibroblasts

Steroid sulphatase (X-linked ichthyosis)

Whole blood [ EDTA ] or Fibroblasts

Succinylacetone (HPLC-MSMS)

Plasma or Bloodspots

Sugar chromatography of mono & disaccharides (TLC)

Urine or Faeces

Transferrin glycoforms (congenital disorders of glycosylation)

Plasma or Serum

Tripeptidyl peptidase I (Neuronal ceroid lipofuscinosis 2)

Whole blood [ EDTA ] or Fibroblasts

Very long chain fatty acids

Whole blood [ Lithium Heparin or EDTA or FluorideOxalate ]