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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
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 (BS)
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 Ion-Exchange, Random, (U)
Amino Acids, Quantitative (CSF)
Amino Acids, Quantitative (P)
Amino Acids, Urea Cycle Disorders Panel (P)
Aminolevulinic Acid (U)
Aminolevulinic Acid Dehydratase (WB)
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 (B)
B-Galactosidase (BS)
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 (S)
Carnitine (U)
Carotene (S)
Ceramide Trihexoside/Sulfatide Accumulation in urine sediment (U)
Coenzyme Q10, Reduced and Total (P)
Congenital Adrenal Hyperplasia Newborn Screening (BS)
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)
Friedreich Ataxia, Frataxin, Quantitative (BS)
Friedreich Ataxia, Frataxin, Quantitative (WB)
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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)
Hexosaminidase A & Total (WBC/AJ)
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)
Lysophosphatidylcholines (DBS)
Lysosomal and Peroxisomal Storage Disorders Screen (DBS)
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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)
Neuraminidase (Fibro)
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
Pernicious Anemia Cascade (S)
Phenylalanine and Tyrosine (P)
Phosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Fibroblasts
Phosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Leukocytes
Pipecolic Acid (S)
Pipecolic Acid (U)
Porphobilinogen (U)
Porphobilinogen Deaminase (WB)
Porphyrins Evaluation (washed RBC)
Porphyrins Evaluation (WB)
Porphyrins, Feces
Porphyrins, Fractionation, Reflex
Porphyrins, Quantitative (U)
Porphyrins, Quantitative, Random (U)
Porphyrins, Total (P)
Porphyrins, Total (RBC)
Post Mortem Screening (Blood & Bile Spots)
Protoporphyrins, Fractionation (RBC)
Purine/Pyrimidine Panel (U)
Pyruvate (CSF)
Pyruvate Dehydrogenase Complex (PDHC), Fibroblasts (T)
Pyruvic Acid (B)
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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)
Tripeptidyl Peptidase 1 (TPP1) and Palmitoyl-Protein Thioesterase 1 (PPT1) (Fibro)
Tripeptidyl Peptidase 1 (TPP1) and Palmitoyl-Protein Thioesterase 1 (PPT1) (WBC)
Tryptophan, Plasma
Tryptophan, (U)
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U
Uroporphyrinogen Decarboxylase (RBC)
Uroporphyrinogen Decarboxylase (washed 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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