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.

 

Tests Provided

 

PLASMA

Amino Acids, Quantitative
Carnitine, Free and Total
Methylmalonic Acid
Total Homocysteine
Methylmalonic Acid/Total Homocysteine Panel

 

URINE

Amino Acids, Quantitative
Organic Acids, Quantitative

 

SERUM

Amino Acids, Quantitative
Biotinidase Activity
Carnitine, Free and Total
Methylmalonic Acid
Total Homocysteine
Methylmalonic Acid/Total Homocysteine Panel

 

WHOLE BLOOD SPOT on Filter Paper

Amino Acids, Quantitative (dietary screen)

 

Ordering Tests

 

Biochemical Genetics Requisition Form (PDF) Updated 6/8/17

WSLH Fee Schedule (test costs & CPT codes)

 

Useful Links

 

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

Webcast: Biochemical Genetics Analysis at the WSLH

 

Contact Staff

Phillip Williams, Sr. Research Specialist, 608-263-4619; fax 608-265-5070
Dr. Patrice Held, 608-265-5968
April Meiller, 608-262-9674