Carbamyl Phosphate Synthetase, Liver - LG841


Sunquest Code:LSMISC  
Epic Code:LAB4909Epic Name:Send Outs Misc Test
Methodology:Colorimetric
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

 

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 carbamoylphosphate deficiency. Results from this assay are not useful for carrier determination. Carriers may have levels in the normal range.


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