GPI Gene Hemolytic Anemia Nonspherocytic Due to Glucose Phosphate Isomerase Deficiency NGS Genetic DNA Test
Understanding GPI Gene Hemolytic Anemia
Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive metabolic disorder that represents the third most common cause of hereditary nonspherocytic hemolytic anemia. This specialized genetic test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the GPI gene located on chromosome 19q13.1, providing crucial diagnostic information for patients with unexplained chronic hemolytic conditions.
What This Test Measures and Detects
The GPI Gene NGS DNA Test comprehensively analyzes the entire coding region of the GPI gene to identify pathogenic variants responsible for glucose phosphate isomerase deficiency. This advanced genetic screening detects:
- Point mutations, deletions, and insertions in the GPI gene
- Autosomal recessive inheritance patterns
- Specific genetic variants affecting enzyme function
- Carrier status for family members
- Genetic markers associated with disease severity
Who Should Consider This Test?
This specialized genetic testing is recommended for individuals presenting with symptoms suggestive of hemolytic anemia or those with a family history of glucose phosphate isomerase deficiency. Key indications include:
Clinical Symptoms and Risk Factors
- Unexplained chronic hemolytic anemia from infancy or childhood
- Jaundice and elevated bilirubin levels
- Splenomegaly (enlarged spleen)
- Fatigue, weakness, and exercise intolerance
- Gallstone formation at an early age
- Family history of hemolytic disorders
- Consanguineous parentage
- Unexplained neonatal hyperbilirubinemia
Benefits of GPI Gene Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages for patients and healthcare providers:
Diagnostic and Therapeutic Benefits
- Accurate Diagnosis: Confirms GPI deficiency as the underlying cause of hemolytic anemia
- Personalized Treatment: Guides targeted management strategies including potential splenectomy considerations
- Family Planning: Enables genetic counseling and carrier testing for at-risk relatives
- Prognostic Information: Helps predict disease course and potential complications
- Differential Diagnosis: Distinguishes GPI deficiency from other hemolytic anemias
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your GPI gene status with clear interpretation guidelines:
Result Interpretation Framework
- Positive Result: Identifies pathogenic variants in both GPI gene copies, confirming glucose phosphate isomerase deficiency diagnosis
- Carrier Status: Detection of a single pathogenic variant indicates carrier status with no clinical symptoms
- Negative Result: No pathogenic variants detected, suggesting alternative causes for hemolytic anemia
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation
All results are accompanied by detailed genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | GPI Gene Hemolytic Anemia Nonspherocytic Due to Glucose Phosphate Isomerase Deficiency NGS Genetic DNA Test | – |
| Discount Price | Limited Time Offer | $500 |
| Regular Price | Standard Rate | $700 |
| Turnaround Time | Comprehensive Analysis | 3-4 Weeks |
| Sample Type | Multiple Options Available | Blood, Extracted DNA, or FTA Card |
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, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many other cities. Our network of certified genetic testing facilities ensures accessible, reliable diagnostic services nationwide.
Take Control of Your Health Today
Don’t let unexplained hemolytic anemia symptoms go undiagnosed. Our specialized GPI Gene NGS DNA Test provides the definitive answers you need for proper medical management and peace of mind. With our limited-time discount pricing at $500 USD (regularly $700 USD), now is the perfect opportunity to invest in your genetic health.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our compassionate team is available to answer your questions and guide you through the testing process with expertise and care.
Take the first step toward accurate diagnosis and personalized treatment by scheduling your GPI Gene Hemolytic Anemia NGS Genetic DNA Test today. Your journey to better health begins with understanding your genetic blueprint.
