Primary
Immunodeficiency
Genetic Testing (NGS)
Turnaround
7–10 Days
Panel Size
47 Genes
Primary Immunodeficiency occurs when part of the immune system does not function properly due to inherited genetic variations. Early genetic identification enables faster diagnosis, targeted treatment, and improved patient care.
What Causes Primary
Immunodeficiency?
Primary immunodeficiencies are caused by inherited mutations in genes responsible for immune system development and function. These genetic defects disrupt key immune pathways — affecting T cells, B cells, neutrophils, and complement proteins.
Unlike secondary immunodeficiencies, PI disorders are present from birth and are driven entirely by the patient's genetic blueprint. Early molecular diagnosis is critical to preventing irreversible organ damage from recurrent infections.
Associated Conditions
Adenosine Deaminase (ADA) Deficiency
A form of SCID caused by ADA enzyme deficiency that leads to accumulation of toxic metabolites destroying T and B lymphocytes.
Agammaglobulinemia
Characterized by very low or absent immunoglobulins, leaving patients highly susceptible to bacterial infections.
Ataxia Telangiectasia
A multisystem disorder affecting the nervous system, immune function, and DNA repair, with elevated cancer risk.
Chronic Granulomatous Disease
Defect in NADPH oxidase complex that impairs the ability of phagocytes to destroy bacteria and fungi.
IgA Deficiency
The most common primary immunodeficiency, characterized by absent or very low serum IgA levels.
Wiskott–Aldrich Syndrome
X-linked condition affecting T cells, B cells, and platelets, presenting with eczema, thrombocytopenia, and infections.
Hyper-IgE Syndrome
Characterized by extremely elevated IgE levels, recurrent skin abscesses, and pneumonia.
X-linked Severe Combined Immunodeficiency
The most common form of SCID, caused by mutations in the common gamma chain shared by several cytokine receptors.
Who Is This Test For?
Primary immunodeficiency often goes undiagnosed for years. Genetic testing is strongly recommended for individuals presenting with any of the following clinical indicators.
Benefits of Primary Immunodeficiency
Genetic Testing
Confirm Diagnosis
Establish an accurate molecular diagnosis and end the diagnostic odyssey.
Identify Additional Risks
Uncover future health complications before they manifest clinically.
Personalized Management
Tailor treatment strategies to each patient's precise genetic profile.
Family Risk Awareness
Identify hereditary risk patterns to protect close relatives.
Family Planning Support
Provide genetic counseling guidance for informed reproductive decisions.
Lifestyle Optimization
Enable targeted diet, prevention planning, and infection avoidance protocols.
47-Gene Primary
Immunodeficiency Panel
Sample Type
Buccal Swab / Saliva
Turnaround Time
7–10 Business Days
Gene Panel
47 Clinically Curated Genes
Coverage
>96% at 20x
Reporting
Pathogenic Variants
Customization
Custom Gene Lists Available
Sequencing Method
Next-Generation Sequencing (NGS)
Learn More About
Primary Immunodeficiency
CDC Resource
Centers for Disease Control and Prevention clinical guidance on primary immunodeficiencies.
Immune Deficiency Foundation
The leading patient organization for primary immunodeficiency diseases, offering education and support.
AAAAI Overview
American Academy of Allergy, Asthma & Immunology clinical overview of primary immunodeficiency.
Why Choose Preventive Genomics
High-Quality Testing
Next-generation sequencing with >96% coverage at 20x depth across all 47 genes.
Fast Turnaround
Results delivered securely to your provider within 7–10 business days.
Comprehensive Panel
47 clinically curated immune genes spanning signaling, repair, and complement pathways.
Collaborative Care
Reports designed for immediate clinical action with specialist referral support.
What Is Genetic Testing?
Genetic testing analyzes your DNA — the chemical database that carries instructions for your body's functions. These tests can identify changes or variants in genes, chromosomes, or proteins that may cause or increase the risk of certain health conditions.
For primary immunodeficiency, NGS provides a comprehensive scan of 47 immune-relevant genes, detecting single nucleotide variants, insertions, deletions, and copy number variations with high clinical sensitivity.
Why It Matters
Many primary immunodeficiency disorders are misdiagnosed or diagnosed only after years of unexplained illness. Early genetic confirmation enables targeted treatment before irreversible complications occur.
Results inform not just the individual patient, but also family members who may carry the same inherited variant — potentially transforming care across an entire family.
Diagnose Diseases
Confirm molecular diagnoses with precision.
Family Planning
Understand hereditary risk for family members.
Disease Prevention
Enable proactive intervention before onset.
Personalized Treatment
Tailor therapy to specific genetic pathways.
Testing Outcomes & Benefits
A pathogenic or likely pathogenic variant is identified. Immediate clinical action is recommended — specialist referral, targeted therapy planning, and family screening.
No pathogenic variants detected in the 47-gene panel. Clinical correlation remains important. Expanded panels may be considered if suspicion persists.
A variant of uncertain significance (VUS) is identified. Continued clinical observation and periodic re-classification as evidence evolves.
Insurance Coverage & Next Steps
Most commercial insurance plans and Medicare cover hereditary immunodeficiency panels when clinical necessity guidelines are met.
Review Your Policy
Check your insurance plan for coverage of hereditary immunodeficiency genetic testing panels.
Consult Your Provider
Your ordering clinician documents clinical necessity criteria to support pre-authorization.
Prior Authorization
Vediagnostics provides comprehensive pre-authorization support to maximize coverage.
Unlock Precision Immunology Care
with Preventive Genomics
Advanced 47-gene NGS panel enabling earlier diagnosis, targeted treatment, and better outcomes for patients with hereditary immune disorders.