Fatty Acid Oxidation Disorder Laboratory

These are the diagnostic services available in the Fatty Acid Oxidation Disorder Laboratory at the Medical College of Wisconsin and Children’s Hospital of 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, e-mail or fax me if you want additional testing information or wish to discuss individual patients.

List of Available Diagnostic Tests (PDF)


American Board of Pediatrics - 1981
American Board of Medical Genetics
  Clinical Genetics - 1982
  Clinical Biochemical Genetics – 1993, 2003, 2005, 2007, 2009

Clinical Laboratory Improvement Amendments (CLIA) Certificate of Compliance (PDF)

Laboratory Name: Fatty Acid Oxidation
LAP Number: 1780401
CAP Accreditation Expires: September 2012
CLIA Identification Number: 52D0661957, expires 01/2015
Medicare Number: 160058
Medi-Cal Provider Number: XYP173950
State License Number: Wisconsin 42007
Federal Tax ID Number: 39-0806261N
HCFA License Number: 16-0058
UPIN #: A01404

 Requisition Form and Billing Information

Please download the Requisition Form (PDF) and include in the shipment of the skin fibroblasts.

Patient and Billing Information
For cultures sent by mail to our laboratory, we only bill the referring hospital or laboratory for these tests. We suggest having the Department of Pathology in your hospital send the sample to us. The requisition form should be included with fibroblast cultures and clinical and biochemical information.

 Shipping Instructions, Pricing and CPT Codes

Ship two T-25 (25cm2) flasks of confluent fibroblasts obtained from skin biopsy and routine fibroblast tissue culture to the above address by overnight express accompanied by clinical and biochemical data and the billing information sheet.

  • 3H-Acyl-carnitine profiling by radio-HPLC in intact cultured fibroblast monolayers to screen for all known disorders of β-oxidation, excluding riboflavin-responsive variants and all methylmalonic acidemias: $1008.75(CPT codes 88233 + 82017 + 82486), including physician interpretation (CPT code 80500).
  • Immunoblotting for short-, medium-, long-, and very-long chain acyl-CoA dehydrogenase and α- and β- electron transfer flavoprotein subunits in fractionated cultured fibroblasts:  $766.25 for any of the above polypeptides (CPT codes 87252 + 86334 + 83894 + 88346 + 84165), including physician interpretation (CPT code 80500).

Prenatal Diagnosis

Prenatal diagnosis on amniocytes is possible for virtually all fatty acid oxidation disorders. However, before we will accept amniocyte samples from a referring laboratory, please contact William J. Rhead, MD, PhD, directly at (414) 266-2906. In addition to 2 confluent T-25 flasks of amniocytes from the proband fetus, we require amniocytes from 2 anonymous control pregnancies, 2 T-25s each. Further details can be obtained directly from Dr. Rhead.

These analyses are non-experimental, non-investigational and not in conflict with medical standards. This laboratory and Children's Hospital of Wisconsin has been accredited by the Joint Commission on Accreditation of Healthcare Organizations, the College of American Pathologists, CLIA (16D0664504), and HCFA (license number 16-0058). Dr. Rhead is board-certified in Clinical Biochemical Genetics by the American Board of Medical Genetics.

Explanation of CPT Codes

88233 Skin fibroblast culture
87252 Tissue culture of skin fibroblasts for immunoblotting
82017 Radioactive substrate assay and measurement of radiolabelled metabolites
88346 Fluorescent assay to measure cell protein
86334 Gel electrophoresis of proteins before immunoblotting
83894 Immunoblotting
84165 Protein electrophoretic fractionation and quantitation using immunoblotting
82486 Chromatography, qualitative, by HPLC of 3H-acyl-carnitines
83918 Physician interpretation

Contact Information & Specimen Delivery Address

Medical College of Wisconsin
Fatty Acid Oxidation Disorder Laboratory
Attn: William J. Rhead, MD, PhD | Professor of Pediatrics
Department of Pediatrics – Genetics
8701 Watertown Plank Road
Milwaukee, WI 53226

Lab: (414) 266-2906 | Office: (414) 266-2979

Hours of Operation

The laboratory is regularly staffed Monday through Friday, 8 a.m. to 4:30 p.m. (Central Standard Time).

Specimen Delivery

Ship to us Monday through Thursday. Shipments are to be delivered to:

William J. Rhead, MD, PhD
CHW Warehouse
6740 W. Washington St.
West Allis, WI 53214

Medical College of Wisconsin
8701 Watertown Plank Road
Milwaukee, WI 53226
(414) 955-8296
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© 2015

Page Updated 03/02/2015