Indications: Useful for diagnostic confirmation of specific defects of b-methylcrotonyl-CoA carboxylase (usually recognized through organic acid or acylcarnitine analyses), for distinction from general defects of biotin sufficiency/metabolism, or for detection of heterozygosity. Assay of pyruvate carboxylase (another biotin enzyme) is included as an internal control.
Method Description: Radioactive enzyme assay of substrate specific 14CO2 fixation.
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Specimen
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Specimen Requirements
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Shipping Requirements
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| Cultured Skin Fibroblasts |
REQUIRES ADVANCE SCHEDULING
Two confluent T25 flasks filled to the neck with media in a non-vented flask and tape/parafilm shut. If several assays are ordered (more than 3), the shipment of an additional T25 flask is recommended.
Also the cell line MUST be MYCOPLASMA tested. If your institution is unable to test for mycoplasma, please tell us when you schedule a shipment or send them to Bionique to get tested.
Amt Required: 2T25 flasks |
Schedule a shipment time and ship the 2T25 flasks at room temperature with enough packing material so flasks do not leak.
Please notify us if you are unable to ship the skin fibroblasts on your scheduled shipment time. |
| Skin Biopsy |
Biopsy must be obtained under sterile conditions. Be careful to remove all betadine and alcohol and rinse with saline prior to obtaining the sample. Use a 3 or 4mm punch biopsy kit or take from the site of incision for a muscle biopsy.
Place biopsy in a container of sterile Hanks Balance Salt Solution (HBSS), sterile Ringer's Lactate, or other physiological solution.
Minimum Amt Required: a bx punch or a piece |
Call us to let us know you'll be sending the skin biopsy and ship at room temperature with enough packing material so container does not leak.
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Liver |
After a biopsy/autopsy, the tissue specimen should be immediately quick-frozen in liquid nitrogen.
Minimum Amt Required: 50 mg |
Ship on dry ice.
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Samples Accepted: Monday - Friday, 8:30 AM - 5:00 PM
Turn-Around-Time:
For Liver: 3-4 weeks
For Skin Fibroblasts: 4-6 weeks
CPT Codes for assay of fibroblasts or liver: 84999, 82657, 84157, 80502
CPT Codes for Cell Culture: 88233, 88240
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