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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 Nucleoside Phosphorylase Enzyme Analysis
Test Information: This test provides enzymatic analysis of Purine Nucleoside Phosphorylase for Confirmation of Clinical Diagnosis.

Purine Nucleoside Phosphorylase is deficient in Purine Nucleoside Phosphorylase Deficiency, severe combined immune deficiency.
Test Details
Test Code: 4594
Special Notes: Results from this assay are not useful for carrier determination. Carriers may have levels in the normal range.

The Preferred Sample Type for this assay is Red Blood Cells (#4592). This test can also be performed on Skin Fibroblast Culture (#4593). If the patient has been transfused, we recommend performing this assay on White Blood Cells (#4594).

Results from this test are not useful for Carrier Testing. Please note, carriers may have Purine Nucleoside Phosphorylase levels in the normal range.
Technical Information
Methodology: Radiometric
Gene Name: NP
Protein Name: Purine nucleoside phosphorylase (PNP)
Test Type: Enzyme Analysis
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: White Blood Cells (WBC)
Requirements: Draw blood in an ACD (yellow-top) tube(s) and send 7-10 cc (Adults/Children) and 3-5 cc (Infant<2yrs)
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier to arrive within 36 hours of collection. Do not heat or freeze.

Turn Around Time: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 82489 x 1, 82658 x 1, 84155 x 1


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