3-Hydroxybutyrate Plasma or Serum
7-Dehydrocholesterol (Smith-Lemli-Opitz syndrome) Plasma [ LithiumHeparin ] (0.3ml)
Acetyl CoA alpha-glucosaminide -N-Acetyltransferase (MPS-IIIC, Sanfilippo C) Whole blood [ LithiumHeparin ] (5ml)
Acyl carnitinesDried bloodspot
Adolase ABlood [Lithium-Heparin] or Muscle Biopsy
Aldolase B - fructose-1-phosphate aldolase (Hereditary fructose intolerance) Liver biopsy)
Alpha-fucosidase (frucosidosis) Whole blood [ LithiumHeparin ]
Alpha-galactosidase A (Fabry disease) Whole blood [ LithiumHeparin ]
Alpha-glucosidase - acid maltase (GSD Type II – Pompe disease) DBS , Whole blood (lithium-heparin) , Fibroblasts (skin biopsy)
Alpha-iduronidase (MPS Type I – Hurler or Sheie) Whole blood [ LithiumHeparin ]
Alpha-mannosidase (Alpha-mannosidosis) Whole blood [ LithiumHeparin ]
Amino acids (qualitative) Urine (random plain)
Amino acids (quantitative) Plasma [ LithiumHeparin ] or Urine (random plain) or CSF
Amylo-1,4:1,6-transglucosylase- branching enzyme (GSD Type IV) Whole blood [ LithiumHeparin ]
Amylo-1,6-glucosidase - debranching enzyme (GSD Type III) Whole blood [ LithiumHeparin ]
Arginase Whole blood [ LithiumHeparin ]
Argininosuccinate lyase (Argininosuccinate aciduria) Whole blood [ LithiumHeparin ]
Argininosuccinate synthase (Citrullinaemia type I) Liver biopsy
Arylsulphatase A -sulphatidase (Metachromatic leukodystrophy) Whole blood [ Lithium-Heparin ]
AsparaginaseWhole 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 ]
Biotinidase Plasma [ LithiumHeparin ]
Carbamoylphosphate synthase I (CPS1 deficiency) Liver Biopsy
Chitotriosidase (Gaucher disease) Plasma [ LithiumHeparin ]
Cholestanol (CTX - Cerebrotendinous xanthomatosis) Plasma [ LithiumHeparin ]
Creatine (creatine transporter deficiency) Plasma [ LithiumHeparin ] or Urine (frozen)
CRIM (cross reactive immunologic material)Contact the laboratory for information.
Cystine - urine (Cystinuria monitoring)
Cystine in white blood cells (Cystinosis) 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 [ Lithium Heparin ]
Fructose-1,6-bisphosphatase (Fructose-1,6-bisphosphatase deficiency) Whole blood [ Lithium Heparin ]
Galactose (Galactosaemia) Urine Plain (random)
Galactose-1-phosphate (Galactosaemia monitoring) Whole blood [ Lithium Heparin ]
Galactose-1-phosphate uridyltransferase (Galactosaemia diagnosis) Whole blood [ Lithium Heparin ]
Galactosylceramidase -beta galactocerebrosidase (Krabbe disease) Whole blood [ Lithium Heparin ]
Glucose-6-phosphatase (GSD Type 1a) Liver biopsy
Glucose-6-phosphate translocase -T1, T2, T3 (GSD Type 1b) Liver biopsy
Glycogen phosphorylase, liver (GSD VI) Whole blood [ Lithium Heparin ]
Glycosaminoglycans/mucopolysaccharides (MPS screen) Urine plain (Random)
Guanidinoacetate Plasma [ Lithium Heparin ] or Urine Plain (random)
Heparan N-sulphatase (MPS Type IIIA) Whole blood [ Lithium-Heparin ]
Hexosaminidase A (GM2-gangliosidosis Type 1; Tay-Sachs disease) Whole blood [ Lithium Heparin ]
Hexosaminidase A and B (GM2-gangliosidosis Type 2; Sandhoff disease) Whole blood [ Lithium Heparin ]
Homocysteine -total (Homocystinuria; CBS deficiency) Plasma [ EDTA ] or urine
Iduronate sulphatase (MPS Type II; Hunter) Plasma [ Lithium Heparin ]
Lathosterol (Lathosterolosis) Plasma [ Lithium Heparin ]
Leucine decarboxylase Fibroblasts (skin biopsy)
Lysosomal acid lipase (Wolman disease/Cholesteryl ester storage disease) Whole blood [ Lithium Heparin ]
Multiple sulphatases (Multiple sulphatase deficiency) Whole blood [ Lithium Heparin ]
Muscle B-enolase (GSD XIII)Muscle biopsy
Muscle Lactate Dehydrogenase (GSD XI)Muscle biopsy
Muscle Phosphoglycerate kinaseMuscle biopsy
Muscle phosphorylase (GSD V, McArdle disease) Muscle biopsy
N-Acetyl-alpha-glucosaminidase (MPS IIIB, Sanfillipo B syndrome) Whole blood [ Lithium Heparin ]
N-Acetylaspartate (Canavan disease) Urine plain (random)
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) Plasma [ Lithium Heparin ]
N-Acetylglucosamine-6-sulphatase (MPS IIID, Sanfillipo D) Whole blood [Lithium Heparin ] or Fibroblasts (skin biopsy)
N-Aspartyl-beta-glucosaminidase (Aspartylglucosaminuria) Plasma [ Lithium Heparin ]
Neuraminidase (sialidosis) Whole blood [ Lithium Heparin ]
Organic acids (Qualitative) Urine plain (random)
Orotic acid, orotate Urine plain (random)
Palmitoyl protein thioesterase (Neuronal ceroid lipofuscinosis 1) Whole blood [ Lithium Heparin ]
Phenylalanine/tyrosine (Phenylketonuria monitoring) Plasma [ Lithium Heparin ]
Phosphoethanolamine (hypophosphatasia) Urine plain (random)
Phosphofructokinase (GSD VII, Tarui disease) Muscle biopsy or Whole blood [ Lithium-Heparin ]
Phosphoglycerate mutase (GSD X)Muscle or liver biopsy
Phosphorylase b kinase (GSD IX) Whole blood [ Lithium Heparin ] and Muscle biopsy and Fibroblasts
Phytanate, phytanic acid (Peroxisomal disorders) Plasma [ Unspecified ]
Plasma lysosomal enzymes (Mucolipidosis II (I-cell disease); mucolipidosis type III (pseudo-Hurler dystrophy)) Plasma [ Lithium Heparin ]
Pristanic acid, pristanate (peroxisomal disorders) Plasma [ Unspecified ]
Pyruvate Whole blood (special perchloric acid tube contact lab)
Sialic acid Urine plain (random)
Sitosterol (Sitosterolaemia; phytosterolaemia) Plasma [ Lithium Heparin ]
Sphingomyelinase (Niemann-Pick disease types A +B) Whole blood [ LithiumHeparin ]
Succinylacetone (Tyrosinaemia Type 1) Urine plain (random)
Tripeptidyl peptidase I (Neuronal ceroid lipofuscinosis 2) Whole blood [ LithiumHeparin ]
Very long chain fatty acids Plasma [ Unspecified ]
