PROPIONIC ACIDEMIA DIAGNOSTICS
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.
a complete report will be mailed within 3 weeks to the
call to inquire about prenatal diagnosis for CBS or PCC
deficiency and pricing at (303)-724-3812.