Lab-Specific Test Indexes

Biochemical Genetics Laboratory

Metabolite and Enzyme Assays

Alphabetical Test Index

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A
Acetylcholinesterase (AF)
Acetylcholinesterase (RBC)
Acylcarnitines, Quantitative (P)
Acylglycines (U)
A-Fucosidase (T)
A-Fucosidase (WBC)
A-Galactosidase (S)
A-Galactosidase (T)
A-Galactosidase (WBC)
A-Glucosidase (T)
Aldolase (S)
A-L-Iduronidase (T)
A-L-Iduronidase (WBC)
Alkaline Phosphatase Isoenzymes (S)
A-Mannosidase (T)
A-Mannosidase (WBC)
Amino Acids, Quantitative (CSF)
Amino Acid Quantitative, Random (U)
Amino Acid Screening Profile (P/U)
Amino Acid, Single Determination (P,U,CSF)
Amino Acids, Qualitative (P)
Amino Acids, Qualitative (U)
Amino Acids, Quantitative (U), 24 hr.
Amino Acids, Quantitative (P)
Aminolevulinic Acid Dehydratase/Porphobilinogen Deaminase (U)
Amylase, Macro (BF)
A-N-Acetylglucosaminidase (S)
A-N-Acetylglucosaminidase (T)
Angiotensin converting enzyme (S)
Arylsulfatase A (T)
Arylsulfatase A (U)
ArYlsulfatase A (WBC)
Arylsulfatase B (T)
Ascorbic Acid (P)
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B
Vitamin B6 (P/S)
B-Galactosidase (T)
B-Galactosidase (WBC)
B-Glucosidase (T)
B-Glucosidase (WBC)
B-Glucuronidase (CSF)
B-Glucuronidase (T)
Biotinidase (S)
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C
Carbohydrate Deficient Transferrin (S)
Carbohydrate, Qualitative (U)
Carnitine (P)
Carnitine (U)
Carotene (S)
Ceramide Trihexoside/Sulfatide Accumulation in urine sediment (U)
Ceruloplasmin (S)
CK Isoenzymes (S)
Congenital Adrenal Hyperplasia (CAH) newborn screening, (DBS)
Coenzyme Q10, Reduced and Total (P)
Creatine Disorders Panel (U)
Cystathionine B-Synthase (T)
Cystinuria Profile, quantitative, 24 hour (U)
Cystinuria Profile, quantitative, random (U)
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D
Delta-Aminolevulinic Acid (U)
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)
Glycolate /Glycerate (U)
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H
Hexosaminidase (AF)
Hexosaminidase (S)
Hexosaminidase (T)
Hexosaminidase (WBC)
Hexosaminidase A & Tot, WBS/Mole (RBC)
Hexosaminidase A (MUGS) (S)
Homogentisic Acid (U)
Homovanillic Acid (U)
5-Hydroxyindoleacetic Acid (5-HIAA) (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
Macro AST (S)
Macroamylase (S)
Methylmalonic Acid (AF)
Methylmalonic Acid (S)
Methylmalonic Acid (U)
Mucopolysaccharides Screen (MPS) (U)
Mucopolysaccharides, quantitative (U)
35 S Mucopolysaccharide Turnover (T)
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N
N-Acetyl-Galactosamine-6-Sulfate Sulfatase (T)
Nieman Pick Type C (T)
5'-Nucleotidase (S)
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O
Oligosaccharide Screen (U)
Organic Acids Screen (U)
Orotic Acid (U)
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P
Pancreatic Amylase (S)
Pancreatic Amylase (BF)
Pernicious Anemia Cascade (S)
Phenylalanine (P)
Pipecolic Acid (S)
Pipecolic Acid (U)
Porphobilinogen (U)
Porphyrins Fractionation PBG (U)
Porphyrins Profile (P)
Porphyrins, Fractionation (RBC)
Porphyrins, Quant (F)
Porphyrins, Total (RBC)
Post Mortem Screening (Blood & Bile Spots)
Protoporphyrins, Fractionation (RBC)
Purine/Pyrimidine Panel (U)
Pyruvate Dehydrogenase Complex (PDHC), Fibroblasts (T)
Pyruvic Acid (B)
Pyruvic Acid (CSF)
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R
Respiratory Chain Complexes (T)
Riboflavin (S)
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S
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, Mutation Screen
Smith Lemli Opitz (P)
Sphingomyelinase (T)
Sterols (P)
Succinylacetone (DBS)
Supplemental Newborn Screen (DBS)
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T
Thiamin (B)
Thiopurine Methyltransferase (RBC)
Tryptophan Plasma
Tryptophan Urine
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U
Uroporphyrinogen Decarboxylase (RBC)
Uroporphyrinogen III Cosynthase (RBC)
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V
Vanillylmandelic Acid (U)
Vitamin A & E (S)
Vitamin A (S)
Vitamin E (S)
VMA/HVA, 4hr (U)
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X
Xanthine/Hypoxanthine (U)
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