| Laboratory: | Clinical Biochemistry |
| Test Name: |
THYMIDINE PHOSPHORYLASE - (B)
Test Code:
MIS8
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| Clinical Information: |
Deficiency of thymidine phosphorylase is associated with Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE disease)
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| Collection Devices: |
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| Specimen Required: |
Blood: 8.0 mL
Pediatric Blood: 2.0 mL
DO NOT CENTRIFUGE. Preferred adult volume 8-10 mL and pediatric volume 2-5 mL whole blood. |
| Referral: |
Collect sample on Monday or Tuesday. Store in fridge and ship on ice (DO NOT FREEZE). Enzyme is not stable and must be shipped without delay to Medical Neurogenetics (MNG).
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| Requisition: | |
| Reference Values: |
Will be included with report.
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| Availability: |
Prior arrangements must be made with the Metabolic Laboratory. Samples must be received on a Monday or Tuesday.
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| See Also: | |
| More Information: |
Refrigerate whole blood and ship on ice without delay to Health Sciences Centre MS5 for referral to Medical Neurogenetics (MNG)
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