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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: 4593
Special Notes: The Preferred Sample Type for this assay is Red Blood Cells (#4592). This test can also be performed on White Blood Cells (#4594). 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: PNP
Protein Name: Purine Nucleoside Phosphorylase
Test Type: Enzyme Analysis
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Skin Fibroblast Culture
Requirements: Send two T-25 flasks at approximately 60-80% confluence.
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier.

Turn Around Time: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 82489 x 1, 82658 x 1, 84157 x 1, 88233 x 2, 88240 x 1


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