Carbamoyl Phosphate Synthetase, Liver
| Abbrev Code: | XMISC | ||
| Order Code: | LAB4909 | Order Name: | Laboratory Miscellaneous Order |
| Methodology: | Colorimetric | ||
| CPT Codes: | 82657 x1, 84155 x1, 84311 x1, 84520 x1 | ||
| Turnaround Time: | Performed Mon-Fri; results are reported within 21 days. | ||
| Special Instructions: | Please provide pertinent clinical information. | ||
Collection Instructions
| Specimen: | Liver tissue |
| Optimal Volume: | 3 mm |
| Container: | See Collection Instructions |
| Collection Instructions: | The liver tissue must be flash frozen at -80°C in liquid nitrogen immediately after harvesting. Deliver specimen to laboratory on dry ice. |
Processing and Shipping
| Specimen Processing: | 10 mg frozen tissue. Store on dry ice. |
| Shipping Instructions: | Ship on dry ice. |
| Stability: |
FUDL: Send the white copy of the request form to the FUDL office. Send yellow copy of request form to BGEN lab.
DNA Diagnostic Laboratory Baylor College of Medicine One Baylor Plaza – 201D Houston, TX 77030 (800) 226-3624
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| Test Performed at or Referral Lab | Lab Sendouts (Baylor College of Medicine) |
| Referral Lab number: | 4561 |
Interpretive
| Reference Range: | Liver: 100-250 umol/hr/gram tissue |
| Use: | This enzyme analysis provides confirmation of the clinical diagnosis of carbamoyl phosphate deficiency. Results from this assay are not useful for carrier determination. Carriers may have levels in the normal range. |
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