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case western reserve university

Center for Inherited Disorders of Energy Metabolism

 

PROPIONYL CoA CARBOXYLASE

 

Indications: Useful for diagnostic confirmation of specific defects of propionyl-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.

Specimen
Specimen Requirements
Shipping Requirements
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.

 

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. If biopsy/autopsy is performed on a Friday, keep sample at -70°C or colder over the weekend and ship on Monday.

 

Samples Accepted: Monday - Friday, 8:30 AM - 5:00 PM

Turn-Around-Time:

 2-3 weeks for liver

3-4 weeks for skin fibroblasts cultured from T25

7-10 weeks for culturing skin fibroblasts from a skin biopsy (skin biopsies grow at different rates and sometimes can take 3 months or longer)

CPT Codes for assay of fibroblasts or liver: 84999, 82657, 84157, 80502

CPT Codes for Cell Culture: 88233, 88240

CPT Code for Mycoplasma testing if your institution is unable to do this: 86738

Specimens can be sent via Federal Express, DHL, or UPS using Overnight Priority/Next Morning.

Special Instructions for skin fibroblasts: Ship T25 flasks with Mycoplasma results. Also save back-up flasks of skin fibroblast culture(s) at your institution until you have received the test results in the event of breakage of flasks or contamination during transport.

Future Testing on skin fibroblasts: We freeze down plugs on the cell line(s) you send to us, so if additional testing needs to be ordered in the future, we will have plugs here at CIDEM to initiate.

 

 

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