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Biochemical Genetics Laboratory

Metabolite and Enzyme Assays

Alphabetical Test Index

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A
Acetylcholinesterase, Amniotic Fluid (AChE-AF), Amniotic Fluid
Acetylcholinesterase, Erythrocytes
Acid Alpha-Glucosidase, Blood Spot
Acylcarnitine C4, Quantitative (U)
Acylcarnitine C5-OH, Quantitative (U)
Acylcarnitine C5-DC, Quantitative (U)
Acylcarnitines, Quantitative (P)
Acylglycines, Quantitative (U)
A-Fucosidase, Firbroblasts (T)
A-Fucosidase, Leukocytes (WBC)
A-Galactosidase (S)
A-Galactosidase, Leukocytes (WBC)
A-L-Iduronidase (BS)
A-L-Iduronidase (T)
A-L-Iduronidase (WB)
Alkaline Phosphatase Isoenzymes (S)
Allo-isoleucine, Blood Spot
A-Mannosidase (T)
A-Mannosidase (WBC)
Amino Acids, Maple Syrup Urine Disease Panel (P)
Amino Acids, Quantitative (CSF)
Amino Acids, Quantitative Ion-Exchange, Random, (U)
Amino Acids, Quantitative (P)
Amino Acids, Urea Cycle Disorders Panel (P)
Aminolevulinic Acid (ALA), (U)
Aminolevulinic Acid Dehydratase (ALA-D), Erythrocytes
A-N-Acetylglucosaminidase (S)
A-N-Acetylglucosaminidase (T)
Arylsulfatase A (T)
Arylsulfatase A (U)
Arylsulfatase A, Leukocytes
Arylsulfatase B, Fibroblasts
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B
B-Galactosidase (T)
B-Galactosidase (WBC)
B-Glucosidase (T)
B-Glucosidase (WBC)
Beta-Glucuronidase, Fibroblasts
Biotinidase (B)
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C
Carbohydrate Deficient Transferrin, Adult (S)
Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation (S)
Carbohydrate, Qualitative (U)
Carnitine (P)
Carnitine (U)
Carotene (S)
Ceramide Trihexoside/Sulfatide Accumulation in urine sediment (U)
Ceruloplasmin (S) (performed by Cardiovascular Laboratory Medicine)
CK Isoenzymes (S)
Congenital Adrenal Hyperplasia (CAH) Newborn Screening, Blood Spot
Coenzyme Q10, Reduced and Total (P)
Creatine Disorders Panel (U)
Creatine Kinase Isoenzyme Reflex, Serum
Cystinuria Profile, quantitative, 24 hour (U)
Cystinuria Profile, quantitative, random (U)
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D
D-Lactate (P)
D-Lactate (U)
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F
Familial Amyloidosis (B)
FAP, Comprehensive (S)
FAP, Essential (S)
FAP, Mitochondrial (S)
FAP, Peroxisomal (S)
Fatty Acid Oxidation (T)
Fetal Lung Profile (AF)
Fibroblast Culture (T)
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G
Galactokinase (RBC)
Galactose (P)
Galactose (U)
Galactose-1-Phosphate (RBC)
Galactose-1-Phosphate Uridyltransferase (RBC)
Galactose-1-Phosphate Uridyltransferase Phenotyping (RBC)
Galactosemia Confirmation Test (RBC)
Galactosylceramide-B-Galactosidase (T)
Galactosylceramide-B-Galactosidase (WBC)
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H
Hexosaminidase (S)
Hexosaminidase (WBC)
Hexosaminidase A & Tot, WBS/Mole (RBC)
Hexosaminidase A (MUGS) (S)
Homocysteine (Total), Methylmalonic Acid, and Methylcitric Acid, Blood Spots
Homovanillic Acid (U)
Homovanillic Acid, Random (U)
5-Hydroxyindoleacetic Acid (5-HIAA) (U)
Hyperoxaluria Panel, (U)
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I
Iduronate Sulfatase (T)
Inherited Conjugated Hyperbilirubinemias (U)
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L
Lactate Dehydrogenase Isoemzymes (S)
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M
Methylmalonic Acid (AF)
Methylmalonic Acid (P)
Methylmalonic Acid (S)
Methylmalonic Acid (U)
Mucopolysaccharides Screen (MPS) (U)
Mucopolysaccharides, quantitative (U)
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N
N-Acetyl-Galactosamine-6-Sulfate Sulfatase (T)
Niemann-Pick Type C Detection, Fibroblasts
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O
Oligosaccharide Screen (U)
Organic Acids Screen (U)
Orotic Acid (U)
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P
Phenylalanine and Tyrosine (P)
Phosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Leukocytes
Pipecolic Acid (S)
Pipecolic Acid (U)
Porphobilinogen (U)
Porphobilinogen (PBG) Deaminase, Erythrocytes
Porphyrins, Feces
Porphyrins, Quantitative, Random (U)
Porphyrins, Total (P)
Porphyrins Evaluation, Whole Blood
Post Mortem Screening (Blood & Bile Spots)
Protoporphyrins, Fractionation (RBC)
Purine/Pyrimidine Panel (U)
Pyruvate Dehydrogenase Complex (PDHC), Fibroblasts (T)
Pyruvic Acid (B)
Pyruvate CSF)
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S
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, Mutation Screen (performed by Molecular Genetics Laboratory)
Smith Lemli Opitz (P)
Sphingomyelinase (T)
Sterols (P)
Succinylacetone (DBS)
Supplemental Newborn Screen (DBS)
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T
Thiopurine Methyltransferase (RBC)
Tryptophan, Plasma
Tryptophan, (U)
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U
Uroporphyrinogen Decarboxylase (RBC)
Uroporphyrinogen III Cosynthase (RBC)
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V
Vanillylmandelic Acid (U)
Vanillylmandelic Acid, Random (U)
VMA/HVA (U)
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X
Xanthine/Hypoxanthine (U)
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