Lab-Specific Test Indexes

Biochemical Genetics Laboratory

Metabolite and Enzyme Assays

Categorized Test Index

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A biochemical genetics laboratory differs from the clinical chemistry laboratory in the extent of interpretation that is necessary to make its results meaningful to the clinician. Testing for hereditary metabolic disorders has developed from a highly specialized and fragmented activity, provided mostly by research-oriented scientists, to a critical component at the forefront of the laboratory work-up of patients of all ages.

The Biochemical Genetics Laboratory at Mayo Clinic is an interdisciplinary group of laboratorians with a mission to provide biochemical testing and result interpretation of the highest quality for the diagnosis, study and clinical care of patients with inborn errors of metabolism, risk of cardiac disease, malabsorption and malnutrition disorders. We routinely perform qualitative detection and quantitative determination of diagnostic markers based on a variety of manual, automated, and chromatographic methods, particularly HPLC, GC/MS, and MS/MS.

 

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Amino acid metabolism
Amino acid, combinations of 5 or less, quantitative, plasma, urine or CSF
Amino acids, qualitative, urine
Amino acids, quantitative, plasma
Amino acids, quantitative, 24 h, urine
Amino Acids, Quantitative (CSF)
Amino acids, quantitative, random, urine
Cystathionine beta-synthase, fibroblasts
Cystine, quantitative, urine
Homocysteine, total, plasma (Cardiovascular Laboratory)
Homocysteine, total, urine (Cardiovascular Laboratory)
Methylmalonic acid, serum
Methylmalonic acid, urine
Organic acids, urine
PKU (PHE & TYR), plasma
Succinylacetone, dried blood spots
Supplemental newborn screening, dried blood spots
Tryptophan Plasma
Tryptophan Urine
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Carbohydrate metabolism
Acid maltase activity (1,4-alpha-glucosidase, glycogen storage disease type II, pompe disease), fibroblasts
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
Homocysteine, total, plasma (Cardiovascular Laboratory)
Homocysteine, total, urine (Cardiovascular Laboratory)
Methylmalonic acid, serum
Methylmalonic acid, urine
Organic acids, urine
Pernicious anemia cascade, serum (Central Clinical Laboratory)
Vitamin A, serum
Vitamin A & E, serum
Vitamin B1 (thiamin), blood
Vitamin B2 (riboflavin), plasma or serum
Vitamin B6 (pyridoxal 5'-phosphate), plasma or serum
Vitamin C (ascorbic acid), plasma
Vitamin E, serum
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Congenital disorders of glycosylation
Carbohydrate deficient transferrin, serum
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Copper metabolism
Ceruloplasmin, serum
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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Fabry disease
Alpha-galactosidase, fibroblasts
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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Homocystinuria
Cystathionine beta-synthase, fibroblasts
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)
Mitochondrial respiratory chain complexes (RCC) profile, fibroblast cultures
Organic acids, urine
Pyruvate Dehydrogenase Complex (PDHC), Fibroblasts (T)
Pyruvic acid, blood
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Mucopolysaccharidosis (MPS) screening
Mucopolysaccharide turnover, fibroblasts
Mucopolysaccharides, urine
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MPS Type I (Hurler/Scheie)
Alpha-L-iduronidase, fibroblasts
Alpha-L-iduronidase, leukocytes
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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, CSF
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
Pernicious anemia cascade, serum (Central Clinical Laboratory)
Vitamin A, serum
Vitamin A & E, serum
Vitamin B1 (thiamin), blood
Vitamin B2 (riboflavin), plasma or serum
Vitamin B6 (pyridoxine), plasma or serum
Vitamin C (ascorbic acid), plasma
Vitamin E, serum
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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)
Homogentisic acid, urine
Isovaleryl-CoA dehydrogenase (IVD) mutation analysis (A282V) (Molecular Genetics Laboratory)
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)
Acid maltase activity (1,4-alpha-glucosidase), fibroblasts
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Porphyrias
Delta-aminolevulinic acid, 24 h, urine
Porphobilinogen deaminase (uroporphyrinogen I synthase), erythrocytes
Porphobilinogen, random, urine
Porphyrins (including porphobilinogen), quantitation, 24 h, urine
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Congenital erythropoietic porphyria
Porphyrins (including porphobilinogen), quantitation, 24 h, urine
Porphyrins, feces
Porphyrins, fractionation, erythrocytes
Uroporphyrinogen III co-synthase, erythrocytes
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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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Hereditary Coproporphyria
Porphyrins (including porphobilinogen), quantitation, 24 h, urine
Porphyrins, feces
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Porphyria cutanea tarda, erythrohepatic porphyria
Porphyrins (including porphobilinogen), quantitation, 24 h, urine
Porphyrins, feces
Porphyrins profile, plasma
Uroporphyrinogen decarboxylase, erythrocytes
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Variegate porphyria
Porphyrins (including porphobilinogen), quantitation, 24 h, urine
Porphyrins, feces
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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, total, erythrocytes
Porphyrins profile, plasma
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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, amniocytes
Hexosaminidase A and total, fibroblasts
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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