DIAGNOSTICS

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images/fold.gif (119 bytes) CBS 
images/fold.gif (119 bytes) PCC
images/fold.gif (119 bytes) DIAGNOSTICS 
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     doc.gif (130 bytes) PCC deficiency
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HOMOCYSTINURIA AND PROPIONIC ACIDEMIA


  • ENZYME ASSAYS: Our service includes culturing of patient-derived skin fibroblasts to a sufficient density to allow several assays of cystathionine ß-synthase (CBS) or propionyl-CoA carboxylase (PCC) activity.
  • DNA ANALYSIS: DNA sequencing of the entire coding region of CBS and PCC is available. Please inquire at www.uchsc.edu/dnalab/.
  • Typically, a complete report will be mailed within 3 weeks to the patient's physician.
  • Please call to inquire about prenatal diagnosis for CBS or PCC deficiency and pricing at (303)-724-3812.
Address for overnight shipment:
Jan P.Kraus, Ph.D.
UCD at Fitzsimons
Molecular Genetics Laboratory
Bldg. RC1 North Tower
Room P18-4403G
12800 E.19th Ave.
Aurora, CO 80045
U.S.A.

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