Choose Test:
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| Test: | Carboxylases |
| Comments: | (PYRUVATE, PROPIONYL-COA, AND 3-METHYLCROTONYL-COA CARBOXYLASES) Radiochemical assays performed on cultured cells or isolated lymphocytes. For blood lymphocytes assay, please call to assure staff is available (specimens must be processed stat upon arrival). Fibroblast/Amniocyte analysis will have an additional charge for culture (see fibroblast/amniocyte culture) |
| Specimen type: | Blood, Cultured Cells |
| Sample Requirements: | Blood, 7-10 mL in ACD (yellow-top) tube (3 ml minimum on infants), kept at room temperature and shipped overnight at room temperature. For greater reliability, we require a simultaneous sample from a control individual (not a member of the patient's family).
Fibroblasts, Two T-25 flasks shipped overnight with medium at room temperature. Prenatal diagnosis of Multiple Carboxylase Deficiency or Isolated Carboxylase Deficiency is possible with Amniocytes: Please call lab to coordinate. |
| Turnaround time: | Routine: 5-10 working days (not including growing cultured cells, if required). |
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