Pediatrics: Genetics

EmailEmail    |   Bookmark Page Bookmark  |   RSS Feeds RSS  |   Print Page Print  

Fatty Acid Oxidation Disorder Laboratory

Shipping Instructions, Pricing and CPT Codes 

SHIP TO:
William J. Rhead, M.D., Ph.D.
CHW Warehouse
6740 W. Washington St.
West Allis, WI  53214
414-266-2506

SHIP to us Monday through Thursday
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


 

webmaster@mcw.edu
© 2014 Medical College of Wisconsin
Page Updated 02/05/2014