Biochemical Genetics Laboratory
Metabolite and Enzyme Assays
Categorized Test Index
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.
Or sort
by name.
Homocysteine,
total, plasma (Cardiovascular Laboratory)
Homocysteine,
total, urine (Cardiovascular Laboratory)
Galactosemia
Gene Analysis (6 Mutation Panel) (Molecular Genetics Laboratory)
Homocysteine,
total, plasma (Cardiovascular Laboratory)
Homocysteine,
total, urine (Cardiovascular Laboratory)
Pernicious
anemia cascade, serum (Central Clinical 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)
Acylcarnitines,
bile spots (Postmortem screening, dried blood spots and bile spots)
Free
fatty acids, total, serum (Cardiovascular Laboratory)
Medium-Chain
Acyl-CoA dehydrogenase (MCAD) deficiency molecular profile (Molecular Genetics Laboratory)
Short-Chain
Acyl-CoA dehydrogenase (SCAD) gene analysis(Molecular Genetics Laboratory)
Galactosemia
gene analysis (6 mutation panel) (Molecular Genetics Laboratory)
Gaucher
Disease, Molecular Analysis (Carrier Detection) (Molecular Genetics Laboratory)
Homocysteine,
total, plasma (Cardiovascular Laboratory)
Homocysteine,
total, urine (Cardiovascular Laboratory)
Cholesteryl
esters, serum (Cardiovascular Laboratory)
Free
fatty acids, total, serum (Cardiovascular Laboratory)
Lecithin
cholesterol acyltransferase, serum (Cardiovascular Laboratory)
Lipoprotein
Metabolism Profile (Cardiovascular Laboratory)
L-Lactate (Central
Clinical Laboratory)
Pernicious
anemia cascade, serum (Central Clinical Laboratory)
Acylcarnitines,
bile spots (Postmortem screening, blood spots and bile spots)
Homocysteine,
total, urine(Cardiovascular Laboratory)
Homocysteine,
total, plasma(Cardiovascular Laboratory)
Isovaleryl-CoA
dehydrogenase (IVD) mutation analysis (A282V) (Molecular Genetics Laboratory)
Alpha-fetoprotein,
amniotic fluid (Endocrine Laboratory)
Maternal
serum screen, AFP single marker, serum (Endocrine Laboratory)
Maternal
serum screen, four marker, serum (Endocrine Laboratory)
For information
regarding the possibility of prenatal diagnosis for metabolic conditions,
please contact a laboratory genetic counselor at 507-266-8158.
Tay-Sachs
diagnosis and carrier detection (Molecular Genetics Laboratory)