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Paediatric Laboratory Medicine

Metabolic Diseases - Genetic Metabolic

Acetyl-CoA: Glucosamineacetyl Transferase

Acylcarnitines with Interpretation, Quantitative, Plasma/Serum

Alpha-Fucosidase Enzyme Activity, Fibroblasts

Alpha-Fucosidase Enzyme Activity, Leukocytes

Alpha-Galactosidase Enzyme Activity, Fibroblasts

Alpha-Galactosidase Enzyme Activity, Leukocytes

Alpha-Galactosidase Enzyme Activity, Serum

Alpha-Glucosidase Enzyme Activity, Fibroblasts

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 Enzyme Activity, Fibroblasts

Beta-Glucuronidase Enzyme Activity, Leukocytes

Beta-Hexosaminidase Enzyme Activity, Total and % Hexosaminidase B, Fibroblasts

Beta-Hexosaminidase Enzyme Activity, Total and % Hexosaminidase B, Leukocytes

Beta-Hexosaminidase Enzyme Activity, Total and % Hexosaminidase B, Serum

Beta-Mannosidase Enzyme Activity, Fibroblasts

Beta-Mannosidase Enzyme Activity, Leukocytes

Biotinidase Enzyme Activity, Plasma/Serum

CDG Transferrin (Carbohydrate Deficient Transferrin) Serum

Creatine Disorders Panel (Urine)

Free and Total Carnitine, Plasma/Serum

Free and Total Carnitine, Urine

Galactocerebrosidase Enzyme Activity, Fibroblasts

Galactocerebrosidase Enzyme Activity, Leukocytes

Galactose-1-Phosphate Uridyl Transferase (GAL-1-PUT) Enzyme Activity, Quantitative, RBC - CURRENTLY UNAVAILABLE

Galactosemia Screen (GAL-1-PUT screen), Whole Blood

Glycolipid TLC Screen, Urine

Heparan N-sulfate Sulfatase Enzyme Activity, Fibroblasts (Sanfilippo Syndrome Type A)

Hyperoxaluria panel, urine

Iduronate Sulfatase Enzyme Activity, Serum - CURRENTLY UNAVAILABLE

Iduronatesulfate Sulfatase, fib - Temporarily Unavailable

Lysomsomal Acid Lipase Enzyme Activity, Leukocytes

Lysosomal Acid Lipase Enzyme Activity, Fibroblasts

Mucopolysaccharides Screen, Urine

Mucopolysaccharide TLC, Urine

N-Acetyl-Galactosamine-6-sulfate Sulfatase Enzyme Assay, Fibroblasts

N-Acetyl-Galactosamine-6-sulfate Sulfatase Enzyme Assay, Leukocytes

N-Acetyl-Glucosamine-6-sulfate Sulfatase Enzyme Assay, Fibroblasts (Sanfilippo Syndrome Type D) - CURRENTLY UNAVAILABLE

Oligosaccharides, Urine

Organic Acids

Orotic Acid, Urine

Phenylalanine and Tyrosine, Blood Spot

Sialic Acid, Urine

Sphingomyelinase Enzyme Activity, Fibroblasts

Succinylacetone with Qualitative Organic Acids, Urine

Sulfatides, Urine

Sulfocysteine, Urine

Valine, Leucine, Alloisoleucine and Isoleucine, Blood Spot