GPI Gene Hemolytic Anemia Nonspherocytic Due to Glucose Phosphate Isomerase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Hemolytic Anemia
The GPI Gene Hemolytic Anemia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying glucose phosphate isomerase deficiency, a rare inherited metabolic disorder affecting red blood cell stability and lifespan. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide definitive diagnosis and personalized insights for patients and families affected by this challenging hematological condition.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based test specifically targets the GPI gene located on chromosome 19, which encodes the glucose phosphate isomerase enzyme crucial for glycolysis in red blood cells. The test detects:
- Pathogenic variants and mutations in the GPI gene
- Single nucleotide polymorphisms affecting enzyme function
- Deletions, insertions, and complex rearrangements
- Both homozygous and compound heterozygous mutations
- Novel genetic variants with potential clinical significance
Clinical Indications: Who Should Consider Testing
This specialized genetic test is recommended for individuals presenting with:
- Unexplained chronic hemolytic anemia from infancy or childhood
- Recurrent jaundice and elevated bilirubin levels
- Family history of nonspherocytic hemolytic anemia
- Neonatal hyperbilirubinemia requiring phototherapy
- Unexplained splenomegaly or gallstone formation
- Fatigue, pallor, and exercise intolerance of unknown origin
- Previous inconclusive hematological workup results
Significant Benefits of Genetic Testing
Undergoing the GPI Gene Hemolytic Anemia NGS Test provides numerous advantages:
- Definitive Diagnosis: Confirms glucose phosphate isomerase deficiency with high accuracy
- Personalized Treatment: Guides appropriate management strategies including potential splenectomy considerations
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Early Intervention: Facilitates proactive management to prevent complications
- Differential Diagnosis: Distinguishes GPI deficiency from other hemolytic anemias
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming GPI deficiency diagnosis
- Negative Result: No disease-causing variants detected, suggesting alternative diagnoses
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation copies for genetic counseling
All results include detailed clinical implications and recommendations for follow-up care with hematology specialists.
Test Pricing and Availability
| Test Description | Price |
|---|---|
| GPI Gene Hemolytic Anemia Nonspherocytic Due to Glucose Phosphate Isomerase Deficiency NGS Genetic DNA Test – Discount Price | $500 USD |
| GPI Gene Hemolytic Anemia Nonspherocytic Due to Glucose Phosphate Isomerase Deficiency NGS Genetic DNA Test – Regular Price | $700 USD |
Nationwide Testing Accessibility
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results regardless of collection location.
Take Control of Your Health Today
Don’t let unexplained hemolytic symptoms compromise your quality of life. Our specialized genetic testing provides the answers you need for proper diagnosis and management. With rapid turnaround times of 3-4 weeks and comprehensive genetic counseling support, we make advanced genetic testing accessible and understandable.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and personalized care for glucose phosphate isomerase deficiency.
