Manchester – Willink Biochemical Genetics Laboratory

Willink Biochemical Genetics Laboratory

Address
Willink Biochemical Genetics Laboratory
6th Floor, Pod 1, Manchester Centre for Genomic Medicine
St. Mary’s Hospital
Manchester University NHS Foundation Trust, Oxford Road
Manchester, M13 9WL

Website: https://www.mangen.co.uk/

Main Contact
Miss Teresa Hoi-Yee Wu
Consultant Clinical Scientist
T: (0161) 701 1838
F: (0161) 701 2303
E: Contact Miss Teresa Hoi-Yee Wu

Other Contacts

James Cooper

Oliver Parkes
Joint head of Newborn Screening and metabolites section
T: (0161)701 2140
F: (0161) 701 2303
E: Contact James Cooper and Oliver Parkes

Dr Heather Church
Principal Clinical Scientist ( Head of LSD section)
T: (0161)701 2306
F: (0161) 701 2303
E: Contact Dr Heather Church

Mrs Karen Tylee
Principal Clinical Scientist
T: (0161)701 2306
F: (0161) 701 2303
E: Contact Mrs Tykee Karen

Main BMS Contact
Mr Robert Gibson
Chief Biomedical Scientist
T: (0161)701 2143
F: (0161) 701 2303
E: Contact Mr Robert Gibson

LABORATORY INFORMATION

Clinical Pathology Accreditation (CPA): N/A

ISO15189: Full

UKAS No.: 9865

UKAS Website: Visit UKAS website

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

There are currently 64 names in this directory

3-Hydroxy-3-methylglutaryl-CoA lyase (HMG-CoA lyase)

Fibroblasts

3-Methylcrotonyl-CoA carboxylase (3-Methylcrotonyl Glycinuria)

Fibroblasts

7-Dehydrocholesterol (Smith-Lemli-Opitz syndrome)

Plasma [ EDTA ] (2ml)

Acetyl CoA alpha-glucosaminide -N-Acetyltransferase (MPS-IIIC, Sanfilippo C)

Whole blood [ EDTA ] (5ml) or Fibroblasts

Acyl carnitines

Plasma or Dried bloodspot

Alpha-fucosidase (fucosidosis)

Whole blood [ EDTA ] or Fibroblasts

Alpha-galactosidase A (Fabry disease)

Whole blood [ EDTA ] or Fibroblasts (contact lab) or Dried Bloodspot

Alpha-glucosidase - acid maltase (GSD Type II – Pompe disease)

Whole blood [ EDTA ] (5ml within 48hrs of collection) or Fibroblasts (discuss with lab) or Dried Bloodspot

Alpha-iduronidase (MPS Type I – Hurler or Sheie)

Whole blood [ EDTA ] or Fibroblasts (discuss with lab)

Alpha-mannosidase (Alpha-mannosidosis)

Whole blood [ EDTA ] or Fibroblasts (discuss with lab)

Amino acids (qualitative)

Urine (random plain)

Amino acids (quantitative)

Plasma [ LithiumHeparin ] or Dried Bloodspot (2 full circles soaked through on guthrie card)

Argininosuccinate lyase (Argininosuccinate aciduria)

Fibroblasts (discuss with lab)

Argininosuccinate synthase (Citrullinaemia type I)

Fibroblasts (discuss with lab)

Arylsulphatase A (Metachromatic leukodystrophy)

Whole blood [ EDTA ] or Fibroblasts (discuss with lab)

Beta galactocerebrosidase (Galactosylceramidase) (Krabbe disease)

Whole blood [ EDTA ] (5mls) or Fibroblasts

Beta-galactosidase (MPS Type IVB)

Whole blood [ EDTA ] or Fibroblasts (discuss with lab)

Beta-glucosidase – glucocerebrosidase (Gaucher disease)

Whole blood [ EDTA ] or Fibroblasts (discuss with lab)

Beta-glucuronidase (MPS Type VII)

Whole blood [ EDTA ] or Fibroblasts (discuss with lab)

Beta-mannosidase (Beta-mannosidosis)

Whole blood [ EDTA ] or Fibroblasts (discuss with lab)

Biotinidase

Plasma [ LithiumHeparin ]

Chitotriosidase (non-specific marker of storage / biomarker for Gaucher disease)

Plasma [ EDTA ] (at least 2mls)

Cholestanol (CTX - Cerebrotendinous xanthomatosis)

Plasma [ EDTA ]

Cystine in white blood cells (cystinosis)

Whole blood [ Lithium-Heparin ] (to be received within 24hrs of collection)

Filipin staining (Niemann-Pick Type C)

Fibroblasts (discuss with lab)

Galactose-1-phosphate (Galactosaemia monitoring)

Whole blood [ Lithium Heparin ]

Galactose-1-phosphate uridyltransferase (Galactosaemia diagnosis)

Whole blood [ Lithium Heparin ]

Glycosaminoglycans/mucopolysaccharides (MPS screen)

Urine plain (10mls Random)

Hexosaminidase A (GM2-gangliosidosis Type 1; Tay-Sachs disease)

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

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

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

Holocarboxylase synthetase

Fibroblasts (discuss with lab)

Iduronate sulphatase (MPS Type II; Hunter)

Plasma [ EDTA ] (5mls) or Fibroblasts (discuss with lab)

Leucine decarboxylase

Fibroblasts (discuss with lab)

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

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

Lysosomal Enzyme Screen (detects 16 different lysosomal storage disorders)

Whole blood [ EDTA ] (5mls)

Multiple Hydrolases (Mucolipidosis II /III (I-cell disease, pseudo-Hurler polydystrophy))

Plasma [ EDTA ] (3mls) or Fibroblasts

Multiple sulphatases (Multiple sulphatase deficiency)

Whole blood [ EDTA ] (5mls) or Fibroblasts

N-Acetyl-alpha-glucosaminidase (MPS IIIB, Sanfillipo B syndrome)

Whole blood [ EDTA ] or Fibroblasts

N-Acetylgalactosamine-4-sulphatase (Arylsulphatase B) [MPS VI, Maroteaux-Lamy syndrome]

Whole blood [ EDTA ] or Fibroblasts

N-Acetylgalactosamine-6-sulphatase (MPS IV A, Morquio A disease)

Whole blood [ EDTA ] or Fibroblasts

N-Acetylgalactosaminidase (Schindler disease)

Whole blood [ EDTA ] or Fibroblasts

N-Aspartyl-beta-glucosaminidase (Aspartylglucosaminidase) [Aspartylglucosaminuria]

Whole blood [ EDTA ] or Fibroblasts

Neuraminidase (sialidosis)

Fibroblasts

Non-Immune Hydrops Screen (detects 9 different lysosomal storage disorders)

Fibroblasts or cultured chorionic villus or cultured amniotic fluid (please contact laboratory)

Oligosaccharides

Urine plain (random)

Organic acids (Qualitative)

Urine plain (random)

Orotic acid, orotate

Urine plain (random)

Oxysterol (Nieman-Pick disease Type C)

Plasma [ EDTA ] (separate and freeze on day of sampling)

Palmitoyl protein thioesterase 1 (Neuronal ceroid lipofuscinosis 1)

Whole blood [ EDTA ]

Phenylalanine/tyrosine (Phenylketonuria monitoring)

Plasma [ Lithium Heparin ] or Dried Bloodspot

Phytanate, phytanic acid (Peroxisomal disorders)

Plasma [ Lithium Heparin or EDTA ]

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

Plasma [ EDTA ] or Fibroblasts

Plasmalogens (Peroxisomal disorders)

Whole blood [ EDTA ]

Pristanic acid, pristanate (peroxisomal disorders)

Plasma [ Lithium Heparin or EDTA ]

Propionyl Co A carboxylase

Fibroblasts

Pyruvate carboxylase (Pyruvate carboxylase deficiency)

Fibroblasts

Sialic acid

Urine plain (random) or Fibroblasts

Sphingomyelinase (Niemann-Pick disease types A +B)

Whole blood [ EDTA ] or Fibroblasts

Steroid sulphatase (Arylsulphatase C) (X-linked ichthyosis)

Whole blood [ EDTA ] (5mls) or Fibroblasts

Sugar Chromatography

Urine (Random 2ml)

Sulphamidase (Heparan N Sulphatase) [MPS IIIA]

Whole blood [ EDTA ] or Fibroblasts

Total Homocysteine

Plasma [ Lithium-Heparin ]

Tripeptidyl peptidase I (Neuronal ceroid lipofuscinosis 2)

Whole blood [ EDTA ]

Very long chain fatty acids

Plasma [ Lithium Heparin or EDTA ]