TPI1 Gene Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency NGS Genetic DNA Test
Understanding TPI1 Gene Hemolytic Anemia and Triosephosphate Isomerase Deficiency
Triosephosphate isomerase (TPI) deficiency is a rare autosomal recessive metabolic disorder that affects the glycolytic pathway, leading to chronic hemolytic anemia and severe neurological complications. The TPI1 Gene Hemolytic Anemia NGS Genetic DNA Test represents a breakthrough in diagnostic precision for this challenging condition. This advanced genetic analysis provides definitive identification of mutations in the TPI1 gene, enabling accurate diagnosis and personalized management strategies for affected individuals and their families.
What Does This Test Measure and Detect?
Our comprehensive NGS genetic test specifically targets the TPI1 gene located on chromosome 12p13, which encodes the triosephosphate isomerase enzyme. This sophisticated analysis detects:
- Point mutations, deletions, and insertions in the TPI1 gene
- Specific pathogenic variants associated with enzyme deficiency
- Compound heterozygous and homozygous mutations
- Novel genetic variations with potential clinical significance
- Carrier status for family members
The test utilizes next-generation sequencing technology to provide complete coverage of the TPI1 gene coding regions, splice sites, and regulatory elements, ensuring maximum detection sensitivity for this rare genetic disorder.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This specialized genetic test is recommended for individuals presenting with:
- Unexplained chronic hemolytic anemia from infancy or childhood
- Neurological manifestations including developmental delay, dystonia, or pyramidal tract signs
- Recurrent infections and susceptibility to bacterial pathogens
- Family history of TPI deficiency or consanguineous parents
- Unexplained neonatal jaundice requiring phototherapy
- Progressive neuromuscular deterioration
- Cardiomyopathy or other systemic complications
Early genetic testing is particularly crucial for infants and children showing signs of the classic triad: hemolytic anemia, neurological dysfunction, and increased infection susceptibility.
Comprehensive Benefits of TPI1 Genetic Testing
Clinical Advantages and Patient Outcomes
Undergoing TPI1 gene testing provides numerous significant benefits:
- Definitive Diagnosis: Confirms or rules out TPI deficiency with high accuracy
- Personalized Treatment: Guides targeted therapeutic interventions and management strategies
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Prognostic Information: Helps predict disease progression and potential complications
- Carrier Detection: Identifies asymptomatic carriers within families
- Research Contribution: Advances understanding of this rare metabolic disorder
Understanding Your Test Results
Interpretation and Clinical Guidance
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identification of pathogenic mutations confirms TPI deficiency diagnosis, requiring immediate hematological and neurological evaluation
- Negative Result: Absence of known pathogenic variants significantly reduces likelihood of TPI deficiency
- Variant of Uncertain Significance: Novel genetic changes requiring additional clinical correlation and family studies
- Carrier Status: Identification of single mutation carriers with reproductive implications
All results include detailed interpretation by our board-certified genetic counselors and hematologists, with specific recommendations for clinical management and family testing.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | TPI1 Gene Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Hematology Genetics |
Nationwide Accessibility and Convenient Testing
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, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation for the patient
- Genetic counseling session to create detailed family pedigree
- Review of affected family members with similar symptoms
- Understanding of test implications and potential outcomes
Take Control of Your Genetic Health Today
Don’t let uncertainty about TPI deficiency affect your quality of life. Our advanced genetic testing provides the clarity needed for proper diagnosis and management. Early detection through genetic testing can significantly impact treatment outcomes and family planning decisions.
Ready to schedule your TPI1 Gene Hemolytic Anemia NGS Genetic DNA Test? Contact our genetic specialists today to discuss your testing options and schedule an appointment at a location convenient for you.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team of genetic counselors and hematology specialists is available to answer your questions, explain the testing process, and help you take the next step toward definitive diagnosis and personalized care.
