ʼһ and Children's Research Institute Fatty Acid Oxidation Disorder Laboratory
These are the diagnostic services available in the Fatty Acid Oxidation Disorder Laboratory at the ʼһ and Children’s Wisconsin. For almost 18 years, we have offered these services to geneticists, endocrinologists, gastroenterologists and neurologists around the country. Using radio-HPLC, we can now define the characteristic diagnostic profiles of accumulated fatty acylcarnitines in cultured fibroblasts from affected patients and can also detect isovaleric acidemia, all subtypes of propionic and methylmalonic acidemias and β-ketothiolase deficiency. At present, we offer β-oxidation enzyme immunoblotting in fibroblasts, liver and other tissues for many of the polypeptides involved in the β-oxidation spiral. We have also performed many successful prenatal diagnoses for these disorders in cultured amniocytes. The unique panel of diagnostic tests we offer is summarized below.
My group also collaborates closely with other major North American, European, Japanese and Australasian academic groups concerned with the diagnosis, treatment, and investigation of fatty acid oxidation disorders. I am board certified in Clinical Biochemical Genetics and Clinical Genetics and the laboratory is accredited by CAP, JCAHO and registered under CLIA. Please call, email or fax me if you want additional testing information or wish to discuss individual patients.
List of Available Diagnostic Tests (PDF)
More Information
Contact Information and Specimen Delivery Address
Fatty Acid Oxidation Disorder Laboratory
Attn: William J. Rhead, MD, PhD | Professor of Pediatrics
Department of Pediatrics – Genetics
8701 Watertown Plank Rd.
Milwaukee, WI 53226
Hours Of Operation
The laboratory is regularly staffed Monday through Friday, 8:00 am-4:30 pm. (Central Standard Time).
Specimen Delivery
Ship to us Monday through Thursday. Shipments are to be delivered to:
Children's Wisconsin Warehouse
6740 W. Washington St.
West Allis, WI 53214