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Biochemical Genetics Laboratory

Metabolite and Enzyme Assays

Categorized Test Index

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Amino Acid Metabolism
Amino acids, quantitative, plasma
Amino Acids, Quantitative (CSF)
Amino acids, quantitative, random, urine
Cystine, quantitative, urine
Homocysteine, total, plasma (Cardiovascular Laboratory)
Homocysteine, total, urine (Cardiovascular Laboratory)
Maple Syrup Urine Disease Panel, Plasma
Methylmalonic acid, plasma
Methylmalonic acid, serum
Methylmalonic acid, urine
Organic acids, urine
Phenylalanine and Tyrosine, Plasma
Succinylacetone, dried blood spots
Supplemental newborn screening, dried blood spots
Tryptophan Plasma
Tryptophan Urine
Urea Cycle Disorders Panel, Plasma
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Carbohydrate Metabolism
Carbohydrates (includes oligosaccharides), urine
Galactokinase, erythrocytes
Galactose, quantitative, urine
Galactose-1-phosphate-uridyltransferase, erythrocytes
Galactose-1-phosphate -uridyltransferase phenotyping (biochemical phenotype of common alleles), erythrocytes
Galactose-1-phosphate, erythrocytes
Galactosemia Gene Analysis (6 Mutation Panel) (Molecular Genetics Laboratory)
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Cholesterol Biosynthesis and Transport
Niemann-Pick type C (cholesterol esterification/filipin staining), fibroblasts
Smith-Lemli-Opitz syndrome screen, plasma
Sterols (desmosterol, lathosterol, campesterol, and sitosterol for the investigation of possible desmosterolosis and sitosterolemia), plasma
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Cofactor and Vitamin Metabolism
Carotene, serum
Coenzyme A10, Plasma
Homocysteine, total, plasma (Cardiovascular Laboratory)
Homocysteine, total, urine (Cardiovascular Laboratory)
Methylmalonic acid, plasma
Methylmalonic acid, serum
Methylmalonic acid, urine
Organic acids, urine
Pernicious anemia cascade, serum (Central Clinical Laboratory)
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Congenital Erythropoietic Porphyria
Porphyrins (including porphobilinogen), quantitation, 24 h, urine
Porphyrins, feces
Porphyrins, fractionation, erythrocytes
Porphyrins, quantitative, random, urine
Uroporphyrinogen III co-synthase, erythrocytes
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Congenital Disorders of Glycosylation
Carbohydrate deficient transferrin for congenital disorders of glycosylation, serum
Phosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Leukocytes
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Copper Metabolism
Ceruloplasmin, serum (Cardiovascular Laboratory)
Copper, liver tissue (Metals Laboratory)
Copper, serum (Metals Laboratory)
Copper, urine (Metals Laboratory)
Wilson disease known mutation, blood (Molecular Genetics Laboratory)
Wilson disease mutation screen, blood (Molecular Genetics Laboratory)
Wilson disease screening, dried blood spots
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Delta-aminolevulinic Acid Dehydratase Deficiency Porphyria
Delta-aminolevulinic acid, 24 h, urine
Delta-aminolevulinic acid dehydratase, erythrocytes
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Erythropoietic Protoporphyria
Porphyrins, feces
Porphyrins, total, erythrocytes
Protoporphyrin fractionation, erythrocytes
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Fabry Disease
Alpha-galactosidase, leukocytes
Alpha-galactosidase, serum
Ceramide trihexoside/sulfatide accumulation, urine
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Fatty Acid Metabolism (mitochondrial beta-oxidation) and Carnitine Homeostasis
Acylcarnitines, bile spots (Postmortem screening, dried blood spots and bile spots)
Acylcarnitines, quantitative plasma
Acylglycines, urine
Carnitine, plasma or serum
Carnitine, urine
Fatty acid profile, comprehensive, C8-C26, serum
Fatty acid profile, mitochondrial, C8-C18, serum
Free fatty acids, total, serum (Cardiovascular Laboratory)
Fatty acid oxidation probe assay, fibroblasts
Medium-Chain Acyl-CoA dehydrogenase (MCAD) deficiency molecular profile (Molecular Genetics Laboratory)
Organic acids, urine
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, Mutation Screen
Short-Chain Acyl-CoA dehydrogenase (SCAD) gene analysis(Molecular Genetics Laboratory)
Supplemental newborn screening, dried blood spots
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Fucosidosis
Alpha-L-fucosidase, fibroblasts
Alpha-L-fucosidase, leukocytes
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Galactosemia
Galactokinase, erythrocytes
Galactose-1-phosphate-uridyltransferase, erythrocytes
Galactose-1-phosphate -uridyltransferase phenotyping (biochemical phenotype of common alleles), erythrocytes
Galactose-1-phosphate, erythrocytes
Galactosemia gene analysis (6 mutation panel) (Molecular Genetics Laboratory)
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Gaucher Disease
Beta-glucosidase, fibroblasts
Beta-glucosidase, leukocytes
Gaucher Disease, Molecular Analysis (Carrier Detection) (Molecular Genetics Laboratory)
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GM1 Gangliosidosis
Beta-galactosidase, fibroblasts
Beta-galactosidase, leukocytes
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Hereditary Coproporphyria
Porphyrins (including porphobilinogen), quantitation, 24 h, urine
Porphyrins, feces
Porphyrins, quantitative, random, urine
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Homocystinuria
Homocysteine, total, plasma (Cardiovascular Laboratory)
Homocysteine, total, urine (Cardiovascular Laboratory)
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Krabbe Disease
Galactosylceramide beta-galactosidase, fibroblasts
Galactosylceramide beta-galactosidase, leukocytes
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Lipid Metabolism
Cholesteryl esters, serum (Cardiovascular Laboratory)
Free fatty acids, total, serum (Cardiovascular Laboratory)
Lecithin cholesterol acyltransferase, serum (Cardiovascular Laboratory)
Lipoprotein Metabolism Profile (Cardiovascular Laboratory)
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Lysosomal Metabolism and Storage, Screening Tests
Carbohydrates (includes oligosaccharides), urine
Ceramide trihexoside/sulfatide accumulation, urine
Mucopolysaccharides, urine
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Mannosidosis
Alpha-D-mannosidase, fibroblasts
Alpha-D-mannosidase, leukocytes
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Metachromatic Leukodystrophy
Arylsulfatase A, fibroblasts
Arylsulfatase A, leukocytes
Arylsulfatase A, urine
Ceramide trihexoside/sulfatide accumulation, urine
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Mitochondrial Energy Metabolism (primary lactic acidemias)
Amino acids, quantitative, plasma
Amino acids, quantitative, random, urine
L-Lactate (Central Clinical Laboratory)
Organic acids, urine
Pyruvate Dehydrogenase Complex (PDHC), Fibroblasts (T)
Pyruvic acid, blood
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Mucopolysaccharidosis (MPS) Screening
Mucopolysaccharides, urine
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MPS Type I (Hurler/Scheie)
Alpha-L-Iduronidase, Blood Spots
Alpha-L-Iduronidase, Fibroblasts
Alpha-L-Iduronidase, Whole Blood
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MPS Type II (Hunter)
Iduronate sulfatase, fibroblasts
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MPS Type IIIB (Sanfilippo)
Alpha-N-acetylglucosaminidase, fibroblasts
Alpha-N-acetylglucosaminidase, serum
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MPS Type IVA (Morquio)
N-acetylgalactosamine-6-sulfate sulfatase, fibroblasts
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MPS Type IVB (Morquio)
Beta-galactosidase, fibroblasts
Beta-galactosidase, leukocytes
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MPS Type VI (Maroteaux-Lamy)
Arylsulfatase B, fibroblasts
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MPS Type VII (Sly)
Beta-glucuronidase, fibroblasts
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Newborn Screening
Congenital adrenal hyperplasia (CAH) newborn screening, dried blood spots
Succinylacetone, dried blood spots
Supplemental newborn screening, dried blood spots
Wilson disease screening, dried blood spots
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Niemann-Pick Types A & B
Sphingomyelinase, fibroblasts
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Niemann-Pick Type C
Niemann-Pick C, fibroblasts (cholesterol esterification/filipin staining)
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Nutritional Assays
Carotene, serum
Coenzyme A10, Plasma
Pernicious anemia cascade, serum (Central Clinical Laboratory)
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Organic Acid Disorders
Acylcarnitines, quantitative, plasma
Acylcarnitines, bile spots (Postmortem screening, blood spots and bile spots)
Acylglycines, urine
Amino acids, quantitative, plasma
Amino acids, quantitative, random, urine
Biotinidase, serum
Carnitine, plasma or serum
Fatty acid oxidation probe assay, fibroblasts
Homocysteine, total, urine(Cardiovascular Laboratory)
Homocysteine, total, plasma(Cardiovascular Laboratory)
Isovaleryl-CoA dehydrogenase (IVD) mutation analysis (A282V) (Molecular Genetics Laboratory)
Methylmalonic acid, plasma
Methylmalonic acid, serum
Methylmalonic acid, urine
Organic acids, urine
Supplemental newborn screening, dried blood spots
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Peroxisomal Biogenesis and Metabolism
Fatty acid profile, peroxisomal, C22-C26, serum
Pipecolic acid, serum
Pipecolic acid, urine
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Pompe (GSD Type II)
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Porphyria-Acute Intermittent Porphyria
Delta-aminolevulinic acid, 24 h, urine
Porphobilinogen deaminase (uroporphyrinogen I synthase), erythrocytes
Porphobilinogen, random, urine
Porphyrins (including porphobilinogen), quantitation, 24 h, urine
Porphyrins, quantitative, random, urine
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Porphyria Cutanea Tarda, Hepatoerythropoietic Porphyria
Porphyrins (including porphobilinogen), quantitation, 24 h, urine
Porphyrins, feces
Porphyrins, quantitative, random, urine
Porphyrins, Total (P)
Uroporphyrinogen decarboxylase, erythrocytes
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Porphyrin Metabolism
Delta-aminolevulinic acid, 24 h, urine
Porphobilinogen, random, urine
Protoporphyrin fractionation, erythrocytes
Porphyrins (including porphobilinogen), quantitation, 24 h, urine
Porphyrins, feces
Porphyrins, fractionation, erythrocytes
Porphyrins, quantitative, random, urine
Porphyrins, Total (P)
Porphyrins, total, erythrocytes
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Postmortem Screening
Acylcarnitines, quantitative plasma
Acylglycines, urine
Amino acids, quantitative, plasma
Amino acids, quantitative, random, urine
Carnitine, plasma or serum
Organic acids, urine
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Prenatal Screening
Acetylcholinesterase, amniotic fluid
Alpha-fetoprotein, amniotic fluid (Endocrine Laboratory)
Maternal serum screen, AFP single marker, serum (Endocrine Laboratory)
Maternal serum screen, four marker, serum (Endocrine Laboratory)
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Prenatal Testing
For information regarding the possibility of prenatal diagnosis for metabolic conditions, please contact a laboratory genetic counselor at 507-266-8158.
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Purine and Pyrimidine Metabolism
Organic acids, urine
Orotic acid, urine
Purine/Pyrimidine panel, urine
Xanthine/Hypoxanthine, 24h, urine
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Sialidosis
Neuraminidase, fibroblasts
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Tay-Sachs and Sandhoff
B1 variant, beta-hexosaminidase A, serum
Hexosaminidase A and total, leukocytes
Hexosaminidase A and total, serum
Tay-Sachs diagnosis and carrier detection (Molecular Genetics Laboratory)
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Thiopurine Methyl
Thiopurine methyltransferase, erythrocytes
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Urea Cycle Disorders
Amino acids, quantitative, plasma
Amino acids, quantitative, random, urine
Organic acids, urine
Orotic acid, urine
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Variegate Porphyria
Porphyrins (including porphobilinogen), quantitation, 24 h, urine
Porphyrins, feces
Porphyrins, quantitative, random, urine
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