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Paediatric Laboratory Medicine

Metabolic Diseases - Genetic Metabolic

Acetyl-CoA: Glucosamineacetyl Transferase

Acylcarnitine, Quantitative

Alpha-Fucosidase, fib

Alpha-Fucosidase Enzyme Activity, Leukocytes

Alpha-Galactosidase, fib

Alpha-Galactosidase Enzyme Activity, Leukocytes

Alpha-Galactosidase Enzyme Activity, Serum

Alpha-Glucosidase

Alpha-Iduronidase Enzyme Activity, Fibroblasts

Alpha-Iduronidase Enzyme Activity, Leukocytes

Alpha-Mannosidase Enzyme Activity, Fibroblasts

Alpha-Mannosidase Enzyme Activity, Leukocytes

Alpha-N-Acetylgalactosaminidase Enzyme Activity, Fibroblasts

Alpha-N-Acetylgalactosaminidase Enzyme Activity, Leukocytes

Alpha-N-Acetylglucosaminidase, fib

Alpha-N-Acetylglucosaminidase, s, p

Alpha-N-Acetylglucosaminidase, wbc (Sanfilippo B)

Alpha-Neuraminidase Enzyme Activity, Fibroblasts

Amino Acid Panel, Quantitative, Plasma/Serum

Amino Acids with Interpretation, Quantitative, CSF

Amino Acids with Interpretation, Quantitative, Urine

Arylsulfatase A Enzyme Activity, Fibroblasts

Arylsulfatase A Enzyme Activity, Leukocytes

Arylsulfatase B Enzyme Activity, Fibroblasts

Arylsulfatase B Enzyme Activity, WBC - CURRENTLY UNAVAILABLE

Beta-Galactosidase Enzyme Activity, Fibroblasts

Beta-Galactosidase Enzyme Activity, Leukocytes

Beta-Glucosidase Enzyme Activity, Fibroblasts

Beta-Glucosidase Enzyme Activity, Leukocytes

Beta-Glucuronidase, wbc

Beta-Glucuronidase Enzyme Activity, Fibroblasts

Beta-Hexosaminidase, fib

Beta-Hexosaminidase, s

Beta-Hexosaminidase, wbc

Beta-Hydroxybutyrate

Beta-Hydroxybutyrate CSF

Beta-Mannosidase, fib

Beta-Mannosidase, wbc

Biotinidase

Carnitine, Free and Carnitine, Total Urine

Carnitine, Free and Total

CDG Transferrin (Carbohydrate Deficient Transferrin) Serum

Creatine Disorders Panel (Urine)

Free Fatty Acids

Galactocerebrosidase, fib

Galactocerebrosidase, wbc

Galactosemia Quantitation - Temporarily Unavailable

Galactosemia Screen (GAL-I-PUT screen)

Glycolipids- Screen, TLC (Thin layer chromatography)

Heparan N-sulfate Sulfatase, fib (Sanfilippo Syndrome Type A)

Homocysteine

Hyperoxaluria panel, urine

Iduronatesulfate Sulfatase, fib - Temporarily Unavailable

Iduronatesulfate Sulfatase, p, s - Temporarily Unavailable

Lysomsomal Acid Lipase Enzyme Activity, Leukocytes

Lysosomal Acid Lipase Enzyme Activity, Fibroblasts

Mucopolysaccharide Fractionation by TLC (Thin layer chromatography) - Screen

Mucopolysaccharides Total - Screen

N-Acetyl-Galactosamine-6-sulfate Sulfatase, fib

N-Acetyl-Galactosamine-6-sulfate Sulfatase, wbc

N-Acetyl-Glucosamine-6-sulfate Sulfatase - Temporarily Unavailable

Oligosaccharides - Screen

Organic Acids

Orotic Acid

Phenylalanine and Tyrosine, Blood Spot

Pyruvate (Blood)

Pyruvate (CSF)

Sialic Acid TLC (Thin layer chromatography)

Sphingomyelinase, fib

Succinylacetone

Sulfatides, Urine

Sulfocysteine

Valine, Leucine, Alloisoleucine and Isoleucine, Blood Spot