L-phenylalanine-3D-ballsBiochemical Genetics Laboratory


The WSLH Biochemical Genetics Lab specializes in the diagnosis and monitoring of inborn errors of metabolism, including disorders such as propionic acidemia, phenylketonuria (PKU), maple syrup urine disease and many others. Laboratory tests include amino acid analysis, quantitative organic acid analysis, carnitine and enzymology for biotinidase deficiency. The laboratory is staffed by highly trained, board certified physicians and technical professionals. More than 90% of our laboratory samples are from children, enabling us to serve them throughout their adult lives. Our laboratory works closely with the Wisconsin Newborn Screening Program and the University of Wisconsin School of Medicine and Public Health.

Our staff will help to ensure the correct tests are ordered and a timely interpretation of laboratory results are available to the ordering healthcare professionals. We have the expertise to explain and interpret results and provide clinical correlation when needed.


Prior to submission of specimens for Biochemical Genetics testing, please contact the laboratory at: (608) 263-4619.



Amino Acids, Quantitative
Carnitine, Free and Total
Methylmalonic Acid
Acylcarnitine Profile, Quantitative



Amino Acids, Quantitative
Organic Acids, Quantitative



Amino Acids, Quantitative
Biotinidase Activity
Carnitine, Free and Total
Methylmalonic Acid
Acylcarnitine Profile, Quantitative


WHOLE BLOOD SPOT on Filter Paper

Amino Acids, Quantitative (dietary screen)
Maple Syrup Urine disease
Propionic academia
Methylmalonic acid
Total Homocysteine


Ordering Tests


Biochemical Genetics Requisition Form (PDF) Updated 02/09/22

Clinical Testing Reference Manual


Useful Links


Biochemical Genetics Clinic at the Waisman Center, University of Wisconsin-Madison


Contact Staff

Eric Bialk, Instrument Technologist, 608-263-4619; fax 608-265-5070
Dr. Roberto Mendez, BCG Laboratory Director, 608-265-5968 or 608-263-4619; fax 608-265-5070
April Meiller, Senior Admin Program Specialist, 608-262-9674