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Paediatric Laboratory Medicine

Metabolic Diseases - Genetic Metabolic

Acetyl-CoA: Glucosamineacetyl Transferase

Acid Lipase, fib

Acid Lipase, wbc

Acylcarnitine, Quantitative

Alpha-Fucosidase, fib

Alpha-Fucosidase, wbc

Alpha-Galactosidase, fib

Alpha-Galactosidase, Serum

Alpha-Galactosidase, wbc

Alpha-Glucosidase

Alpha-Iduronidase, fib

Alpha-Iduronidase, wbc

Alpha-Mannosidase, fib

Alpha-Mannosidase, wbc

Alpha-N-Acetylgalactosaminidase, fib

Alpha-N-Acetylgalactosaminidase, wbc

Alpha-N-Acetylglucosaminidase, fib

Alpha-N-Acetylglucosaminidase, s, p

Alpha-N-Acetylglucosaminidase, wbc (Sanfilippo B)

Alpha-Neuraminidase

Amino Acid Panel, Quantitative, Plasma/Serum

Amino Acids, Quantitative CSF

Amino Acids, Quantitative Urine

Arylsulfatase A, fib

Arylsulfatase A, wbc

Arylsulfatase B, fib

Arylsulfatase B, wbc - Temporarily Unavailable

Beta-Galactosidase, fib

Beta-Galactosidase, wbc

Beta-Glucosidase, fib

Beta-Glucosidase, wbc

Beta-Glucuronidase, fib

Beta-Glucuronidase, wbc

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 - (available only if Galactosemia Screen is positve)

Galactosemia Screen (GAL-I-PUT screen)

Glycolipids- Screen, TLC (Thin layer chromatography)

Heparan N-sulfate Sulfatase (this is the test but ordered as San Falipo)

Homocysteine

Iduronatesulfate Sulfatase, fib - Temporarily Unavailable

Iduronatesulfate Sulfatase, p, s - Temporarily Unavailable

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

Oligosaccharides - Screen

Organic Acids

Orotic Acids

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