PNP Gene Immunodeficiency Purine Nucleoside Phosphorylase Deficiency NGS Genetic DNA Test
Understanding PNP Gene Immunodeficiency
PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency represents a rare autosomal recessive disorder affecting the immune system’s proper functioning. This condition results from mutations in the PNP gene, which encodes the enzyme purine nucleoside phosphorylase essential for purine metabolism. When this enzyme is deficient, toxic metabolites accumulate, leading to T-cell dysfunction and severe combined immunodeficiency (SCID).
The importance of early detection cannot be overstated, as untreated PNP deficiency can result in life-threatening infections, neurological complications, and autoimmune manifestations. Our advanced NGS Genetic DNA Test provides comprehensive analysis of the PNP gene, offering families and healthcare providers critical information for timely intervention and management strategies.
What This Test Measures and Detects
Our state-of-the-art NGS Genetic DNA Test specifically targets the PNP gene located on chromosome 14q11.2. The test utilizes Next Generation Sequencing technology to comprehensively analyze:
- Complete coding regions of the PNP gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants associated with purine nucleoside phosphorylase deficiency
- Novel mutations that may impact enzyme function
- Copy number variations affecting gene dosage
The test identifies both homozygous and compound heterozygous mutations that disrupt normal purine metabolism, leading to the characteristic immunodeficiency phenotype. By detecting these genetic alterations, healthcare providers can confirm diagnosis, assess disease severity, and guide appropriate therapeutic interventions.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with specific clinical indications and symptoms suggestive of PNP deficiency:
Clinical Symptoms and Indicators
- Recurrent severe infections beginning in infancy or early childhood
- Failure to thrive and developmental delays
- Autoimmune manifestations including hemolytic anemia and thrombocytopenia
- Neurological symptoms such as spasticity, ataxia, or developmental regression
- Family history of primary immunodeficiency disorders
- Unexplained lymphopenia with particularly low T-cell counts
- Previous abnormal newborn screening for SCID
At-Risk Populations
- Children with suspected primary immunodeficiency syndromes
- Individuals with consanguineous parentage
- Family members of diagnosed PNP deficiency patients
- Patients with unexplained neurological and immunological symptoms
Benefits of Taking the PNP Gene Test
Undergoing genetic testing for PNP deficiency offers numerous advantages for patients and families:
- Early Diagnosis: Enables prompt identification of the underlying genetic cause of immunodeficiency
- Personalized Treatment: Guides targeted therapeutic approaches including enzyme replacement or hematopoietic stem cell transplantation
- Family Planning: Provides crucial information for genetic counseling and reproductive decision-making
- Proactive Management: Allows for preventive measures against infections and complications
- Definitive Answers: Resolves diagnostic uncertainty and eliminates unnecessary testing
- Improved Outcomes: Early intervention significantly enhances quality of life and survival rates
Understanding Your Test Results
Our comprehensive genetic counseling service helps patients and families interpret test results effectively:
Possible Result Interpretations
- Positive Result: Identification of pathogenic mutations confirms PNP deficiency diagnosis, enabling immediate intervention and family screening
- Negative Result: No detected mutations in the PNP gene, suggesting alternative causes for immunodeficiency symptoms
- Variant of Uncertain Significance: Detection of genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identification of single mutation copy indicating carrier state without disease manifestation
Post-Test Guidance
All positive results include detailed genetic counseling to discuss:
- Treatment options including immunoglobulin replacement and antimicrobial prophylaxis
- Referral to immunology specialists for comprehensive care
- Family member testing recommendations
- Long-term management strategies
- Support resources and patient advocacy groups
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | PNP Gene Immunodeficiency Purine Nucleoside Phosphorylase Deficiency NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Comprehensive analysis and reporting | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One drop Blood on FTA Card | – |
Pre-Test Preparation
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process understanding benefits and limitations
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible testing for families nationwide.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and treatment. Our expert team is ready to assist you with comprehensive genetic testing and professional counseling services.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your PNP Gene Immunodeficiency NGS Genetic DNA Test. Our genetic counselors are available to answer your questions and guide you through the testing process with compassion and expertise.
Early detection through genetic testing can significantly improve outcomes for individuals with PNP deficiency. Take the first step toward definitive diagnosis and personalized care management by booking your test today.
