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Biochemical Genetics Laboratory

Metabolite and Enzyme Assays

Categorized Test Index

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Amino Acid Metabolism
top
Bile Acides
top
Carbohydrate Metabolism
top
Cholesterol Biosynthesis and Transport
top
Cofactor and Vitamin Metabolism
top
Congenital Erythropoietic Porphyria
top
Congenital Disorders of Glycosylation
top
Copper Metabolism
top
Delta-aminolevulinic Acid Dehydratase Deficiency Porphyria
top
Erythropoietic Protoporphyria
top
Fabry Disease
top
Fatty Acid Metabolism (mitochondrial beta-oxidation) and Carnitine Homeostasis
top
Fucosidosis
top
Galactosemia
top
Gaucher Disease
top
GM1 Gangliosidosis
top
Hereditary Coproporphyria
top
Homocystinuria
top
Krabbe Disease
top
Lipid Metabolism
top
Lysosomal Metabolism and Storage, Screening Tests
top
Mannosidosis
top
Metachromatic Leukodystrophy
top
Mitochondrial Energy Metabolism (primary lactic acidemias)
top
Mucopolysaccharidosis (MPS) Screening
top
MPS Type I (Hurler/Scheie)
top
MPS Type II (Hunter)
top
MPS Type IIIB (Sanfilippo)
top
MPS Type IVA (Morquio)
top
MPS Type IVB (Morquio)
top
MPS Type VI (Maroteaux-Lamy)
top
MPS Type VII (Sly)
top
Newborn Screening
top
Niemann-Pick Types A & B
top
Niemann-Pick Type C
top
Nutritional Assays
top
Oligosaccharidoses
Organic Acid Disorders
top
Peroxisomal Biogenesis and Metabolism
top
Pompe (GSD Type II)
top
Porphyria-Acute Intermittent Porphyria
top
Porphyria Cutanea Tarda, Hepatoerythropoietic Porphyria
top
Porphyrin Metabolism
top
Postmortem Screening
top
Prenatal Screening
top
Prenatal Testing
top
Purine and Pyrimidine Metabolism
top
Sialidosis
top
Tay-Sachs and Sandhoff
top
Thiopurine Methyl
top
Urea Cycle Disorders
top
Variegate Porphyria
top

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