PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency NGS Genetic Test
Short Name: PNP Immunodeficiency NGS Test
Also known as: PNP Deficiency Genetic Test, Purine Nucleoside Phosphorylase Deficiency NGS Test, PNP Gene Sequencing Test
PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose purine nucleoside phosphorylase deficiency through comprehensive genetic analysis of the PNP gene, enabling early intervention and management of associated immunodeficiency.
- Test Code
- 5001
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and genetic counseling information.
Method: Venipuncture or finger prick for FTA card
Laboratory Analysis
Blood sample collected via venipuncture or a drop on FTA card. Minimal discomfort.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose purine nucleoside phosphorylase deficiency through comprehensive genetic analysis of the PNP gene, enabling early intervention and management of associated immunodeficiency.
How to Prepare
- Ensure proper identification of the patient
- Use sterile equipment for blood collection
- Label samples correctly with patient details
- Store samples at ambient temperature as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of PNP deficiency is vital for timely intervention, such as hematopoietic stem cell transplantation, to prevent life-threatening infections and improve outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or contaminated samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of PNP Gene Immunodeficiency. Genetic counseling and specialist referral recommended.
Negative for pathogenic variant
No mutations detected in the PNP gene. Consider other genetic or non-genetic causes if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a doctor if you experience recurrent infections, failure to thrive, or have a family history of immunodeficiency. After a positive test result, seek immediate specialist care for management options.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or intronic mutations
- ⚠Results should be interpreted in conjunction with clinical findings and family history
- ⚠Does not rule out other genetic causes of immunodeficiency
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●No significant medical risks from the test itself
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusion may affect results
- ●Improper sample storage
Compare With Similar Tests
| Test | PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency NGS Genetic Test | ADA Gene SCID NGS Test | RAG1 Gene Immunodeficiency NGS Test |
|---|---|---|---|
| Comparison | PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency NGS Genetic Test | Both test for immunodeficiency, but ADA deficiency involves adenosine deaminase enzyme. | Targets different gene for combined immunodeficiency with distinct clinical features. |
Frequently Asked Questions
What is PNP Gene Immunodeficiency?
What are the common symptoms of PNP deficiency?
How is PNP Gene Immunodeficiency diagnosed?
What does the NGS Genetic Test involve?
What is the cost of the NGS Genetic Test in India?
Is the test covered by insurance?
How long does it take to get the test results?
What sample is required for the test?
Is home sample collection available?
Are there any risks associated with the test?
Can PNP deficiency be treated?
How accurate is the NGS Genetic Test?
Related Tests
Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.