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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Purine and Pyrimidine Panel - Urine
Test Information: This panel combines tests 4215 (Pyrimidine) and 4220 (purine) into one comprehensive panel. In this panel, quantitative analysis of 8 purine metabolites (Xanthine, Adenine, Adenosine, Hypoxanthine, Succinyladenosine, Deoxyadenosine, Guanosine and Inosine) and 5 pyrimidine metabolites (uracil, thymine, thymidine, dihydrouracil and dihydrothymine).

This test is used for screening purine and pyrimidine disorders including:
Adenosine Deaminase (ADA) deficiency (OMIM 102700),
Adenine Phosphoribosyltransferase (APRT) deficiency (OMIM 614723),
Adenylosuccinate Lyase deficiency (OMIM 103050),
Hypoxanthine Phosphoribosyltransferase (HPRT) deficiency (OMIM 300322),
Molybdenum Cofactor deficiency (OMIM 252150),
Purine Nucleoside Phosphorylase (PNP) deficiency (OMIM 613179),
Dihydropyrimidine Dehydrogenase (DPD) deficiency (OMIM 274270),
Dihydropyrimidinase (DHP) deficiency (OMIM 222748) and
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE, OMIM 603041).

This test can also be used to monitor 5-fluorouracil toxicity (OMIM 274270).
Test Details
Test Code: 4010
Special Notes: Urine Purine (#4220) or Urine Pyrimidine (#4215) can also be ordered separately by clients.

Plasma Thymidine (#4330) is also available for diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE, OMIM 603041).
Technical Information
Methodology: Tandem Mass Spectroscopy
Test Type: Analyte Analysis
References Values or Ranges: Ranges are provided in the report.
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Urine
Requirements: Send 2-4 cc of a random urine. Do not add preservatives. Store the specimen frozen at -20C.
Shipping Conditions: Ship frozen on 3-5 lbs of dry ice in an insulated container by overnight courier.

Turn Around Time: 10 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 82570 x 1, 83789 x 8


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