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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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Purine Nucleoside Phosphorylase Deficiency (PNP) tests available.

PNP Deficiency

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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 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: 4592
Special Notes: This assay can also be performed on Skin Fibroblast Culture (#4593) and 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
References Values or Ranges: Normal Range:
Red Blood Cells: 4.5-20.9 Ámol/min/gm Hb
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Red Blood Cells (RBC)
Requirements: Draw blood in an ACD (yellow-top) tube(s) and send 3-5 cc (Adults/Children/(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, 83026 x 1, 84155 x 1


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