3-Hydroxybutyrate Serum ( 0.5ml with paired glucose)
Acetyl CoA alpha-glucosaminide -N-Acetyltransferase (MPS-IIIC, Sanfilippo C)Whole blood [ LithiumHeparin ] (5ml) or skin biopsy/25cm flask of cultured cells
Acyl carnitines Dried bloodspot
Adenine phosphoribosyltransferase (APRT deficiency) Whole blood [ EDTA ] or Urine
Adenosine deaminase (ADA deficiency) Whole blood [ EDTA ] or Urine or Fluid (if using fluid spin to remove blood and keep at 70oC until sent)
Adenylosuccinate lyase (ADSL deficiency) Urine (plain)
Alpha-fucosidase (frucosidosis) Whole blood [ LithiumHeparin ]
Alpha-galactosidase A (Fabry disease) Plasma [ LithiumHeparin ] or Dried bloodspot
Alpha-glucosidase - acid maltase (GSD Type II – Pompe disease) Whole blood [ LithiumHeparin ] or Fibroblasts (skin biopsy)
Alpha-iduronidase (MPS Type I – Hurler or Sheie) Whole blood [ LithiumHeparin ]
Alpha-mannosidase (Alpha-mannosidosis) Whole blood [ LithiumHeparin ]
Amino acids (quantitative) Plasma [ LithiumHeparin ] or Urine (random plain) or CSF or Dried bloodspot (for BCAA, Met or tHCy)
Argininosuccinate lyase (Argininosuccinate aciduria) Fibroblasts (discuss with lab)
Argininosuccinate synthase (Citrullinaemia type I) Fibroblasts (skin biopsy)
Arylsulphatase A -sulphatidase (Metachromatic leukodystrophy) Whole blood [ EDTA ]
Beta-galactosidase (MPS Type IVB) Whole blood [ LithiumHeparin ]
Beta-glucosidase – glucocerebrosidase (Gaucher disease) Whole blood [ LithiumHeparin ]
Beta-glucuronidase (MPS Type VII) Whole blood [ LithiumHeparin ]
Beta-mannosidase (Beta-mannosidosis) Whole blood [ LithiumHeparin ]
Carbamoylphosphate synthase I (CPS1 deficiency) Liver Biopsy
Catalase latency Fibroblasts
Chitotriosidase (Gaucher disease) Serum
Cholesterol esterification and Filipin staining (Nieman-Pick disease) Fibroblasts (1x 25cm flask or Biopsy)
Cystine - urine (Cystinuria monitoring) Random urine (frozen)
Dihydropyrimidinase (Dihydropyrimidinase deficiency) Urine plain
Dihydropyrimidine dehydrogenase (Dihydropyrimidine dehydrogenase deficiency) Urine OR Whole blood [ EDTA ]
Dihydroxyacetonephosphate acyl transferase (RCDP Type 2) Whole blood [ LithiumHeparin ] or Fibroblasts (skin biopsy)
Free fatty acids Serum (frozen)
Galactokinase (Galactokinase deficiency) Whole blood [ Lithium Heparin ]
Galactose-1-phosphate uridyltransferase (Galactosaemia diagnosis) Whole blood [ Lithium Heparin ]
Galactosylceramidase -beta galactocerebrosidase (Krabbe disease) Whole blood [ Lithium Heparin ]
Glycosaminoglycans/mucopolysaccharides (MPS screen) Urine plain (Random)
Heparan N-sulphatase (MPS Type IIIA) Whole blood [ EDTA ] or Fibroblasts
Hexosaminidase A (GM2-gangliosidosis Type 1; Tay-Sachs disease) Whole blood [ Lithium Heparin ] or Serum
Hexosaminidase A and B (GM2-gangliosidosis Type 2; Sandhoff disease) Whole blood [ Lithium Heparin ]
Hypoxanthine (Disorders of purine metabolism) Urine plain (random)
Hypoxanthine guanine phosphoribosyltransferase (Lesch-Nyhan syndrome) Whole Blood [ EDTA ] or Urine Plain (random)
Iduronate sulphatase (MPS Type II; Hunter) Whole Blood [ Lithium Heparin ]
Inosine monophosphate dehydrogenase Whole Blood [ EDTA ]
Lysosomal acid lipase (Wolman disease/Cholesteryl ester storage disease) Whole blood [ Lithium Heparin ]
Multiple sulphatases (Multiple sulphatase deficiency) Whole blood [ Lithium Heparin ] or Skin biopsy (fibroblasts)
N-Acetyl-alpha-glucosaminidase (MPS IIIB, Sanfillipo B syndrome) Whole blood [ Lithium Heparin ] or Serum
N-Acetylgalactosamine-4-sulphatase (MPS VI, Maroteaux-Lamy syndrome) Whole blood [ Lithium Heparin ]
N-Acetylgalactosamine-6-sulphatase (MPS IV A, Morquio A disease) Whole blood [ Lithium Heparin ]
N-Acetylgalactosaminidase (Schindler disease) Whole blood [ Lithium Heparin ]
N-Aspartyl-beta-glucosaminidase (Aspartylglucosaminuria) Plasma [ Lithium Heparin or EDTA ]
Neuraminidase (sialidosis) Fibroblasts (Skin biopsy)
Oligosaccharides Urine plain (random)
Organic acids (Qualitative) Urine plain (random)
Orotic acid, orotate Urine plain (random)
Oxypurinol (Xanthinuria) Whole blood [ EDTA ] or Urine plain (Random)
Palmitoyl protein thioesterase (Neuronal ceroid lipofuscinosis 1) Whole blood [ Lithium Heparin ] or Fibroblasts
Phenylalanine/tyrosine (Phenylketonuria monitoring) Plasma [ Lithium Heparin ] or Dried Bloodspot
Phosphoribosyl pyrophosphate synthetase (Phosphoribosyl pyrophosphate synthetase superactivity) Whole blood [ EDTA ] or Urine plain (random)
Plasma lysosomal enzymes (Mucolipidosis II (I-cell disease); mucolipidosis type III (pseudo-Hurler dystrophy)) Plasma [ Lithium Heparin ]
Purines and metabolites Urine plain (random)
Pyrimidine 5' nucleotidase Whole blood [ EDTA ]
Pyrimidines and metabolites Urine plain (random)
Pyruvate carboxylase (Pyruvate carboxylase deficiency) Fibroblasts
S-Adenosylhomocysteine hydrolase (S-Adenosylhomocysteine hydrolase deficiency) Whole blood [ EDTA ]
Sialic acid Urine plain (random) or Fibroblasts (skin biopsy or culture)
Sialyl-oligosaccharides Urine plain (random)
Sphingomyelinase (Niemann-Pick disease types A +B) Whole blood [ LithiumHeparin ]
Succinyladenosine (ADSL deficiency) Urine plain (random)
Tripeptidyl peptidase I (Neuronal ceroid lipofuscinosis 2) Whole blood [ LithiumHeparin ]
Uridine monophosphate synthase (Heriditary orotic aciduria) Urine plain (random) or Whole blood [ EDTA ]
Xanthine (Xanthine oxidase deficiency; Xanthine dehydrogenase deficiency) Urine plain (random) or EDTA Whole blood
Xanthine dehydrogenase Urine plain (random) or EDTA Whole blood
