TESTS OFFERED
Associated Disorder
TYPE OF BODY FLUID OR CELL
1
N-acetyl-aspartic acid
Canavan disease
Urine
2
Acid 1,4 -α-Glucosidase
Pompe disease
Leukocytes
3
Amino acids single and total quantitation
Amino acidopathies
Plasma, CSF
4
d-Aminolevulinic acid
Porphyria
Urine
5
Arginase
Arginase deficiency
Red blood cells
6
Arylsulfatase A
Metachromatic Leukodystrophy (MLD)
Urine
7
Arylsulfatase A
Metachromatic Leukodystrophy (MLD)
Leukocytes
8
Arylsulfatase B
Maroteaux-Lamy syndrome
Leukocytes
9
Arylsulfatase A and B
Multiple sulfatase deficiency
Leukocytes
10
Acetoacetate and β-hydroxybutyrate
Primary and secondary ketoacidosis
Urine
11
Argininosuccinic acid
Argininosuccinic aciduria
Plasma
12
Biotinidase
Late onset (juvenile) multiple carboxylase deficiency
Serum
13
L-Carnitine
Fatty acid metabolic abnormality
Plasma
14
Cystine screen
Cystinuria
Urine
15
Glucose-6-P-dehydrogenase
G6PD deficiency
Red blood cells
16
a Galactosidase
Fabry disease
Leukocytes
17
b Galactocerebrosidase
Krabbe disease
Leukocytes
18
b Galactosidase
GM1 Gangliosisdosis or Morquio disease type B
Leukocytes
19
b Glucosidase
Gaucher�s disease
Leukocytes
20
b Glucuronidase
Mucopolysaccharidosis type VII (Sly syndrome)
Leukocytes
21
Galactose
Galactosemia
Serum and urine
22
Galactose-1-P uridyl transferase
Galactosemia
Red blood cells
23
Homocysteine
Homocystinuria
Plasma
24
Homocysteine
Molybdenum cofactor deficiency
Plasma
25
Hexosaminidase A and B
GM2 gangliosidoses (Tay-Sach disease and Sandhoff disease)
Serum
26
a Iduronidase
Hurler syndrome
Leukocytes
27
a Mannosidase
α-Mannosidosis
Leukocytes
28
Multiple lysosomal enzymes
Mucolipidosis II (I-Cell disease)
Plasma
29
Mono and disaccharides
Mono and disaccharidurias
Urine
30
Mucopolysaccharides, total
Mucopolysaccharidosis
Urine
31
Organic acids
Organic acidurias (65 entities)
Urine
32
Organic acids
Organic acidemia
Plasma
33
Oxalic acid
Primary hyperoxaluria Type I & II
Urine
34
Orotic acid
Orotic aciduria
Urine
35
Pyruvate kinase
Pyruvate kinase deficiency
Red blood cells
36
Sphingomyelinase
Niemann-Pick disease type A & B
Leukocytes
37
Succinylacetone
Tyrosinemia type I
Urine
38
Phytanic acid
Refsum's disease
Plasma
39
Very long chain fatty acids
Peroxisomal disorders
Plasma
TESTS OFFERED, SPECIMEN HANDLING AND SHIPMENT
TEST
SPECIMEN / VOLUME
SHIPMENT
Amino acids
1 ml plasma (heparinized blood)
Frozen in dry ice
δ-Aminolevulinic acid
10 ml urine from a 24 hr collection in a bottle containing10 ml 6N HCL
On Wet Ice
Arginase
2 ml heparinized blood
On Wet Ice
Arylsulfatase A
5 to 10 ml spot urine
Frozen in dry ice
Arylsulfatase A and B
10 ml whole blood in heparin or EDTA
On Wet Ice. Prior contact with the laboratory is required
Biotinidase
1 ml serum / plasma
Frozen in dry ice
L-Carnitine, free
1 ml serum / plasma
Frozen in dry ice
Citric acid
4 to 10 ml spot urine
Frozen in dry ice
Galactose
1 ml serum, plasma or spot urine
Frozen in dry ice
Gal-1-P-Uridyltransferase
1 ml whole blood in heparin or EDTA
On Wet Ice
α-Galactosidase
1 ml plasma
On Wet Ice. Prior contact with the laboratory is required
β-Galactoceribrosidase
10 ml whole blood in heparin or EDTA
On Wet Ice. Prior contact with the laboratory is required
β-Galactosidase
10 ml whole blood in heparin or EDTA
On Wet Ice. Prior contact with the laboratory is required
1-4-α-Glucosidase
10 ml whole blood in heparin or EDTA
On Wet Ice. Prior contact with
the laboratory is required
β-Glucuronidase
10 ml whole blood in heparin or EDTA
On Wet Ice. Prior contact with
the laboratory is required
β-Glucosidase
10 ml whole blood in heparin or EDTA
On Wet Ice. Prior contact with the laboratory is required
Hexosaminidase A and B
0.5 ml serum
On Wet Ice
α-L-Iduronidase
10 ml whole blood in heparin or EDTA
On Wet Ice. Prior contact with the laboratory is required
α-Mannosidase
10 ml whole blood in heparin or EDTA
On Wet Ice. Prior contact with the laboratory is required
Mono and dissaccharides
5 ml spot urine
Frozen in dry ice
Mucopolysaccharides
20 ml from a 24 hr urine collected in a bottle containing NO PRESERVATIVE
Frozen in dry ice
Multiple lysosomal enzymes (β-glucuronidase, β-gluco-sidase and α-fucosidase)
1 ml whole blood (Heparin / EDTA)
On Wet Ice. Prior contact with
the laboratory is required
Organic acid
4 to 5 ml spot urine. DO NOT ADD PRESERVATIVE
Frozen in dry ice
Oxalic acid
10 ml urine from a 24 hr collection in a bottle containing10 ml 6N HCL
Frozen in dry ice
Porphyrins
20 ml urine from a 24 hr collection in a bottle containing 5 g Na2CO3. Protect from light. During collection refregirate
On Wet Ice
Phytanic acid
2 ml of plasma, heparin/EDTA
Frozen in dry ice
Very long chain fatty acids
2 ml of plasma, heparin/EDTA
Frozen in dry ice