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HOMOCYSTINURIA AND PROPIONIC ACIDEMIA DIAGNOSTICS


 

  • 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 Denver Genetic Laboratories.

  • 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.