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Enzyme Assay
Metabolite Assay
DNA Test
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21-Hydroxylase Mutation Analysis
3-Beta-Hydroxysteroid C-7-Reductase
3-Hydroxybutyrate
3-Methylcrotonyl-CoA Carboxylase
3-Methylglutaconic Acid
3-Methylglutaconic Hydratase
7-Dehydrocholesterol, Plasma
8 (9) - Cholestenol
AcCoA:Alpha-Glucosaminide N-Ac Transferase
Acetoacetate
Acid Lipase
Acid Phosphatase
Acyl Carnitine Profile
Acylglycines
Adenine Phosphoribosyltransferase (APRT)
Adenosine Deaminase
Adenylate Kinase (Muscle)
Adenylosuccinate Lyase
Adrenocorticotropin (ACTH) Receptor Mutation Analysis
Alanine:Glyoxylate Aminotransferase
Alpha Thalassemia Mutation Analysis
Alpha-Fucosidase
Alpha-Galactosidase
Alpha-Glucosidase (GSD-II)
Alpha-Glucosidase Mutations
Alpha-Iduronidase
Alpha-Mannosidase
Alpha-N-Acetylglucosaminidase
Amino Acids
Androgen Receptor (AR) Mutation Analysis
Androgen Receptor Triplet Expansion
Apolipoprotein A1
Apolipoprotein E Genotype
Argininase
Arginine Vasopressin (Neurophysin II) Genotyping
Argininosuccinate Lyase
Argininosuccinate Synthetase
Arylsulfatase A
Arylsulfatase A Allele Analysis
Arylsulfatase A Mutations
Arylsulfatase A Pseudo-Deficiency
Arylsulfatase B
Arylsulfatase C
Arylsulfatases A and B
Ashkenazi Genetic Disease Screen
Aspartoacylase (Canavan) Mutation Analysis
Aspartyl Glucosamine
Aspartylglucosamine
Aspartylglucosaminidase
ATP7A Mutation Analysis
Azoospermia DAZ/DAZLA mutation screen
Beta-Galactocerebrosidase
Beta-Galactosidase
Beta-Glucosidase
Beta-Glucosidase Mutation Analysis
Beta-Glucuronidase
Beta-Hexosaminidase
Beta-Ketothiolase
Beta-Mannosidase
Beta-N-Acetylglucosaminidase
Beutler Test
Bile Acid Transporter, Ileal, Mutation Analysis
Bile Acids
Biopterin and Pteridine
Biotin
Biotinidase
Branched-Chain Ketoacid Dehydrogenase
Branching Enzyme (GSD-IV)
Canavan Disease, DNA screen
Canavan Disease, Prenatal Diagnosis
Carbamyl Phosphate Synthase I Mutation Analy.
Carbamyl Phosphate Synthetase
Carnitine Acetyltransferase
Carnitine Acylcarnitine Translocase
Carnitine Esters
Carnitine Palmitoyl Transferase
Carnitine Palmitoyltransferase (CPTII) Enzyme Assay
Carnitine Palmitoyltransferase II Mutation Analysis
Carnitine, free & total
Catalase
Catalase Distribution
Cellular Unscheduled DNA Synthesis
Cellular UV RNA Synthesis Inhibition
Cellular UV Survival Curve
Ceramidase
Ceramide Trihexoside
Cerebrotendinous Xanthomatosis Mutation Analysis
CFTR Poly T Analysis
Charcot-Marie-Tooth CMT1A duplication
Chitotriosidase
Chlamydia trichomatis
Cholestanol
Cholesterol Esterification
Citric Acid,Urine
Citrulline Incorporation
Cobalamin Cofactor Distribution
Cobalamin Complementation Analysis
Cobalamin Uptake
Coenzyme Q10
Collagen Lysyl Hydroxylase
Collagen Structure
Connexin 26 Mutation Analysis
Copper Uptake, Fibroblast
CPTII - Common Mutation Analysis
CPTII DNA Analysis - Panel of 9 mutations
Creatine
Creatine transporter
Cystathionine Beta-Synthase
Cystic Fibrosis Mutation Analysis
Cystine, Intracellular
Cytochrome Spectra
D15S63 Methylation
Debranching Enzyme (GSD-III)
Delta-Aminolevulinic acid
Dentatorubral-Pallidoluysian Atrophy Triplet Expansion
Desmosterol
Dihydropteridine Reductase
Dihydropyrimidine Dehydrogenase, Mutation Analysis
Dihydroxyacetonephosphate acyltransferase
Discarded - Becker/Duchenne Muscular Dystrophy
D-Lactate
Dystrophin Multiplex PCR
Electron Transfer Flavoprotein Immunoblot
Enoyl-CoA Hydratase
Essential Fatty Acids
Factor V Leiden
Factor V Leiden Mutation Screen
Fatty Acid Oxidation Flux and Immunoblotting, Fibroblasts
Fatty Acid Oxidation, Amniocytes
Fatty Acid Oxidation, Fibroblasts
Fatty Acid Oxidation, Leukocytes
Fatty Acid Oxidation, Postmortem Screen
Fatty Acid Profile
Fatty Alcohol:NAD Oxidoreductase
Fibrillin
FMR-1 (Fragile X Syndrome) Triplet Repeat and Methylation
Frataxin Triplet Expansion
Free Fatty Acids, Plasma
Fructose Aldolase B
Fructose-1,6-Diphosphatase
Fumarase
G-6-Pase Translocase (GSD-Ib)
G-6-Pase Translocase (GSD-Ib)
G-6-Pase Translocase Mutation Screen (GSD Ib DNA)
GABA (gamma aminobutyric acid)
GABA transaminase
Gal-1-P Uridyltransferase
Galactitol
Galactokinase
Galactose
Galactose Oxidation
Galactose-1-P Uridyl Transferase
Galactose-1-P Uridyl Transferase Assay/IEF
Galactose-1-P Uridyl Transferase Mutations
Galactose-1-P, RBC
Galactose-1-phosphate
Gangliosides
GHB (gamma hydroxy butyric acid)
Glucose-6-Phosphatase (GSD-1a)
Glucose-6-Phosphatase DNA screen
Glutamate Dehydrogenase 1
Glutaric Acid
Glyceraldehyde-3-Phosphate Dehydrogenase
Glycerol Incorporation
Glycerophosphate(alpha) Dehydrogenase
Glycine Cleavage Enzyme Complex
Glycogen Content
Glycogen Debranching Enzyme Mutation Screen (GSD III-a/III-b DNA)
Glycogen Structure
Glycogenoses Screen
Glycogenosis (GSD) Screen
Glycogenosis Screen (GSD Screen)
Glycolipid Profile
Glycosaminoglycans
Gorlin (Nevoid Basal Cell Carcinoma) Syndrome, Mutation Anal
Guanidino acetate methyltransferase
Guanidinoacetate
HCV quantification
Hemoglobin S,C DNA
Hemophilia A
Heparan Sulfamidase
Hexosaminidase (Beta-Hexosaminidase-A)
Hexosaminidase A and B
Hexosaminidase A Mutational Analysis
HFE (Hereditary Hemochromatosis) Mutation Analysis
HIV Genotyping
HIV quantification
HLA typing
HMG-CoA Lyase
Holocarboxylase Synthetase
Homocyst(e)ine
Homocysteine – Total
Homogentisic Acid Screen
HPRT (Hypoxanthine PhosphoribosylTransferase)
HPRT for Carrier Detection
Huntington Disease Triplet Expansion
Hydroxybutyrate and Free Fatty Acids
Hydroxyglutaric acid (quantification of D- and L- forms)
Hydroxyproline
Hypoxanthine-Guanine Phosphoribosyl Transf.
Hypoxanthine-Guanine Phosphoribosyl Transferase
Iduronate Sulfatase
Iduronidase
Iduronidase
Iduronidase Mutations
Imidazoles
Immunoblotting for Fatty Acid Oxidation Enzyme Deficiencies
Indoles
Insulin Receptor Assay
Isoleucine Pathway Assay
Isovaleric Acid
Isovaleryl-CoA Dehydrogenase
Isovalerylglycine
Ketolytic Enzymes (SCOT and beta-ketothiolase)
Lactate Dehydrogenase
Lathosterol
LCAD, MCAD Fibroblast Fatty Acid Oxidation
L-Dopa Decarboxylase
Leucine Oxidation
Leucine Pathway Assay
Lipoprotein(a)
L-Lactate
Long Chain 3-Ketoacyl-CoA Thiolase
Long Chain Acyl-CoA Dehydrogenase
Long Chain Hydroxyacyl CoA Dehydrogenase
Long Chain Hydroxyacyl CoA Dehydrogenase Mutation Analysis
Long Chain Hydroxyacyl-CoA Dehydrogenase (LCHAD) DNA test
Long Chain Hydroxyacyl-CoA Dehydrogenase Genotyping
Lysosomal Storage Disease Panel
Machado-Joseph Disease (MJD-1) Triplet Expansion
Malonyl-CoA Decarboxylase
Maternal Cell Contamination
MCAD - Unknown Mutation Detection by DNA Sequencing
MCAD DNA Analysis - Panel of 9 mutations
MCAD DNA screen
Medium Chain Acyl-CoA Dehydrogenase
Medium Chain Acyl-CoA Dehydrogenase (MCAD) DNA test
Metabolic Screen
Methionine Synthesis
Methylenetetrahydratefolate Reductase Genotyping
Methylenetetrahydratefolate Reductase, Mutation Analysis
Methylmalonic Acid
Methylmalonyl-CoA Mutase
Methyltetrahydrofolate Reductase
Methyltetrahydrofolate Uptake
Mevalonate Kinase
Mevalonic Acid
Mitochondrial 2-Oxoglutarate Dehydrogenase
Mitochondrial Beta-Oxidation
Mitochondrial Citrate Synthase
Mitochondrial Complex I/III
Mitochondrial DNA Mutation Screen
Mitochondrial Electron Transport Cmplx II/III
Mitochondrial Electron Transport Complex I
Mitochondrial Electron Transport Complex II
Mitochondrial Electron Transport Complex III
Mitochondrial Electron Transport Complex III
Mitochondrial Electron Transport Complex IV
Mitochondrial Electron Transport Complex V
Mitochondrial Electron Transport Complexes
Mitochondrial Myopathy Screen
Mitochondrial Oxidative-Phosphorylation Enzyme Profile
Modified Mitochondrial Myopathy Screen
Mucopolysaccharides, Urine
Multiple Carboxylases
Multiple Endocrine Neoplasia, Mutation Analysis
Multiple Hydrolases
Multiple Lysosomal Enzymes-Plasma
Multiple Sulfatases
Myoadenylate Deaminase
Myoglobinuria Screen
Myophosphorylase Mutation Screen
Myotonin Protein Kinase Triplet Repeat
N-Acetyl Alpha-Neuraminidase
N-Acetyl-Alpha-Galactosaminidase
N-Acetylaspartate
N-AcetylGalactosamine-6-Sulfatase
N-Acetylglucosamine 1-phosphotransferase
N-Acetylglucosamine-6-sulfatase
NADH-Cytochrome c Reductase
Neisseria gonorrhoeae
Neuraminic Acid
Norrie gene
Oleic Acid Loading Study
Oligosaccharides
Organic Acids
Organic Compound Analysis by the Urease Method
Ornithine Aminotransferase (Transaminase)
Ornithine Carbamoyltransferase Mutation Analysis
Ornithine Carbamyltransferase
Ornithine Incorporation
Ornithine Transcarbamylase Genotyping
Orotic Acid
Oxalic Acid
Palmitoyl-Protein Thioesterase
Peroxisomal Plasmalogen Synthesis
Phenylalanine
Phenylalanine Hydroxylase (PKU) Mutations
Phosphatidylinositol-4,5-bisphosphate-5-phosphatase
Phosphoenolpyruvate Carboxykinase
Phosphofructokinase (GSD VII)
Phosphofructokinase Mutation Analysis
Phosphoglucoisomerase
Phosphoglucomutase
Phosphoglycerate Kinase
Phosphoglycerate Mutase
Phosphoglycerate Mutase Mutation Analysis
Phosphorylase (GSD V)
Phosphorylase (GSD VI)
Phosphorylase (GSD-V)
Phosphorylase (GSD-V) Mutation Analysis
Phosphorylase Kinase (GSD IX)
Phosphorylase Kinase (GSD-VI)
Phytanic Acid
Phytanic Acid Oxidase
Pipecolic Acid
Pituitary Specific Transcription Factor-1 (POU1F1)
PKU carrier testing
Plasmalogen, RBC
Polycystic Kidney Disease, Adult, Linkage
Polyols
Prader-Willi/Angelman Methylation Studies
Pristanic acid
Procollagen type I (COL1A1, COL1A2) Mutation Analysis
Procollagen type II (COL2A1) Mutation Analysis
Prophet of Pit-1 (PROP-1) Mutation Analysis
Propionate Incorporation
Propionic Acid
Propionyl-CoA Carboxylase
Prothrombin Mutation Screen
Pyridinoline
Pyruvate
Pyruvate Carboxylase
Pyruvate Dehydrogenase
Pyruvate Kinase
Retinoblastoma gene
SAP-1 Western Blot
serum porcelain
serum porcelain
Short Chain 3-Ketoacyl-CoA Thiolase (Mito,K+)
Short Chain Acyl-CoA Dehydrogenase
Short Chain Acyl-CoA Dehydrogenase (SCAD) Gene Variant DNA T
Short Chain Acyl-CoA Dehydrogenase Assay (SCAD)
Short Chain AcylCoA Dehydrogenase Immunoblot
Short Chain Acyl-CoA Dehydrogenase Mutation Studies
Short Chain Hydroxyacyl CoA Dehydrogenase
Sialic Acid
Sialidase
Sialo-oligosaccharides, Urine
Sitosterol
Smith-Lemli-Opitz, Prenatal Diagnosis
Sphingomyelinase
Spinocerebellar Ataxia (SCA1) Genetics Test
Spinocerebellar Ataxia DNA Panel
SRY Mutation Screen
S-Sulfocysteine Assay For Sulfite Oxidase Deficiency
Succinate Dehydrogenase
Succinic Semialdehyde Dehydrogenase
Succinylacetone
Succinylpurine Screen
Sugar Chromatography
Sulfate Transporter DTDST
Sulfate Transporter DTDST Mutation Analysis
Sulfatidase
Sulfatide Loading Study
Sulfatides, Urine
Sulfocysteine
Survival Motor Neuron DNA Deletion Detection (Spinal Muscular Atrophy)
Tay Sachs Disease Carrier Testing
Thiosulfate
Transaldolase
Transferrin Electrofocusing
Trimethylamine, Urine
Triose Phosphate Isomerase
Twin Zygosity Studies
Tyrosine
UDP-Gal-4'-Epimerase
Uniparental Disomy DNA
Valine Pathway Assay
Very Long Chain Acyl-CoA Dehydrogenase
Very Long Chain Fatty Acids
Y Chromosome DNA
Y Chromosome Microdeletion Studies
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