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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 Panel - Urine tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Analyte Analysis Purine Panel - Urine
Test Code: 4220
Enzyme Analysis Purine Nucleoside Phosphorylase Enzyme Analysis
Test Code: 4592
Purine Nucleoside Phosphorylase Enzyme Analysis
Test Code: 4590

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.
Sequence Analysis PNP Sequence Analysis
Test Code: 5025
PNP Sequence Analysis
Test Code: 5026

This test can only be performed if there is a previously identified familial mutation.
PNP Sequence Analysis
Test Code: 5027

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.


Purine Panel - Urine
Test Information: This test provides quantitative analysis of Xanthine, Adenine, Adenosine, Hypoxanthine, Succinyladenosine, Deoxyadenosine, Guanosine, and Inosine.

This test is used for screening purine 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), and
Purine Nucleoside Phosphorylase (PNP) deficiency (OMIM 613179).
Test Details
Test Code: 4220
Special Notes: Purine and Pyrimidine Panel in Urine (#4010) is also available for diagnosis of 9 disorders in either purine or pyrimidine metabolism.

Sulfocysteine in Urine (#4225) is required in the diagnosis of Molybdenum Cofactor Deficiency.
Technical Information
Methodology: Tandem Mass Spectroscopy
Test Type: Analyte Analysis
References Values or Ranges: Age specific 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: 9 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 82570 x 1, 83789 x 3


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