G6PD Gene Mutation Detection Test
Understanding G6PD Deficiency and Genetic Testing
G6PD (Glucose-6-Phosphate Dehydrogenase) Gene Mutation Detection is a sophisticated molecular diagnostic test that identifies specific genetic mutations responsible for G6PD deficiency, one of the most common enzyme deficiencies worldwide affecting over 400 million people globally. This inherited condition primarily affects red blood cells and can lead to hemolytic anemia when individuals are exposed to certain triggers.
What Does the G6PD Gene Mutation Detection Test Measure?
This advanced genetic test specifically analyzes the G6PD gene located on the X chromosome to identify mutations that cause reduced or absent enzyme activity. The test detects:
- Common G6PD gene variants and mutations
- Point mutations affecting enzyme function
- Genetic deletions or insertions
- Specific variants associated with different severity levels
- Inheritance patterns (X-linked recessive)
Who Should Consider G6PD Gene Mutation Testing?
Clinical Indications and Symptoms
This genetic test is recommended for individuals experiencing:
- Unexplained episodes of hemolytic anemia
- Family history of G6PD deficiency
- Adverse reactions to certain medications including antimalarials, sulfa drugs, or specific antibiotics
- Neonatal jaundice without clear cause
- Hemolytic crisis following fava bean consumption
- Individuals from ethnic backgrounds with higher prevalence (Mediterranean, African, Asian descent)
- Pre-medication screening for high-risk drugs
Comprehensive Benefits of G6PD Genetic Testing
Medical Advantages and Clinical Value
Undergoing G6PD Gene Mutation Detection provides numerous critical benefits:
- Medication Safety: Identifies individuals at risk for adverse drug reactions
- Preventive Healthcare: Enables avoidance of triggering substances
- Accurate Diagnosis: Provides definitive genetic confirmation
- Family Planning: Informs inheritance risk for future generations
- Personalized Treatment: Guides safe medication selection
- Early Intervention: Prevents severe hemolytic episodes
- Comprehensive Management: Supports long-term health monitoring
Understanding Your Test Results
Interpretation and Clinical Guidance
Your G6PD Gene Mutation Detection results will provide clear genetic information:
- Normal Result: No detected mutations – normal G6PD enzyme function expected
- Carrier Status: Identified in females with one mutated copy (may have variable enzyme levels)
- Affected Individual: Males with mutation or females with two mutations – confirmed G6PD deficiency
- Variant Classification: Specific mutation identified with associated severity level
- Clinical Recommendations: Personalized guidance based on genetic findings
Important: Always discuss your results with your healthcare provider or genetic counselor for comprehensive interpretation and personalized medical recommendations.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | G6PD Gene Mutation Detection Test |
| Discount Price | $188 USD |
| Regular Price | $300 USD |
| Turnaround Time | Sample by Monday 11 AM; Report in 10 days |
| Sample Type | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube |
| Shipping Instructions | Ship refrigerated. DO NOT FREEZE |
| Required Documentation | Duly filled Genomics Clinical Information Requisition Form (Form 20) mandatory |
| Testing Method | PCR (Polymerase Chain Reaction) |
| Medical Specialty | Physician, Hematologist, Molecular Diagnostics |
Nationwide Testing Availability
We provide comprehensive G6PD genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our nationwide network ensures accessible genetic testing for patients throughout the country.
Take Control of Your Genetic Health Today
Don’t let uncertainty about G6PD deficiency affect your health decisions. Our advanced genetic testing provides the clarity you need for safe medication management and comprehensive healthcare planning. With our discounted price of only $188 USD, professional genetic analysis is more accessible than ever.
Ready to schedule your G6PD Gene Mutation Detection Test? Contact our genetic specialists today to book your appointment or discuss your testing needs.
Call or WhatsApp: +1(267) 388-9828
Our experienced team is available to answer your questions, explain the testing process, and help you take the next step toward understanding your genetic health. Early detection and proper management of G6PD deficiency can prevent serious complications and ensure optimal health outcomes.
