Medical Genetics Test Details
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| Thymidine Determination - Plasma
Thymidine Phosphorylase Deficiency | MNGIE Syndrome | Mitochondrial Neurogastrointestinal Encephalopathy Disease | Mitochondrial Neurogastrointestinal Encephalopathy Syndrome | Myoneurogastrointestinal Encephalopathy Syndrome |
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| Test Information: | This test provides quantitative analysis of Thymidine in Plasma. This test is useful for evaluation of patients suspected of MNGIE Disease. |
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| Test Details | ||
| Test Code: | 4330 | |
| Special Notes: | Results from this test are not useful for Carrier Testing. Please note, carriers may have Thymidine levels in the normal range. | |
| Technical Information | ||
| Methodology: | Tandem Mass Spectroscopy | |
| Gene Name: | TYMP (ECGF1) | |
| Protein Name: | Thymidine phosphorylase | |
| Test Type: | Analyte Analysis | |
| References Values or Ranges: | Normal Range: < 500 nM | |
| Sample & Shipping Information | ||
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| Test Requisition: | Biochemical | |
| Specimen Type: | Plasma | |
| Requirements: | Draw blood in a Heparin (green-top) tube(s) and separate as soon as possible. Send 1-2 cc of plasma. Store the specimen frozen at -20C. Specimen may be stored frozen for up to 7 days. | |
| Shipping Conditions: | Ship frozen on 3-5 lbs of dry ice in an insulated container by overnight courier. |
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| Turn Around Time: | 14 days | |
| Billing Information | ||
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| List Price: | *For Insurance or Institutional Prices, please call. | |
| CPT Codes: | 83789 x 1 | |