WSLH Biochemical Genetics Laboratory

The WSLH Biochemical Genetics Laboratory 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, urine metabolic screens and enzymology for Tay Sachs carriers and 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 State of 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 health care professionals. We have expertise on hand to explain and interpret results and provide clinical correlation when needed. 

Tests we provide:

PLASMA Testing
Amino Acids Quantitative
Carnitines

URINE Testing
Amino Acids, Quantitative
Metabolic Screen
Metabolic Screen, Expanded includes Amino Acids
Organic Acids, Comprehensive Quantitative

SERUM
Amino Acids Quantitative
Biotinidase
Carnitine
Hexosaminidse A & Total (Tay-Sachs) NOTE: This test is used for Tay-Sachs carrier testing and the diagnosis of Sandhoff disease. CAUTION: Serum Hexosaminidase A and Total testing is not valid in women who are pregnant or on oral contraception. In these cases a combination of leukocyte and molecular testing should be performed.

Other testing as requested with prior approval by Laboratory Director.

 

Webcast: Biochemical Genetics Analysis at the WSLH

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

 

Staff & Contact Information

Phillip Williams, Sr. Research Specialist, Phone 263-4619, Fax 265-5070
Tammy Armbrust, Sr. Research Specialist, Phone 263-4619, Fax 265-5070 
Dr. Mei Baker, 890-1796
Dr. Greg Rice, 263-4619
April Meiller, 262-9674