TPI1 Gene Hemolytic anemia due to triosephosphate isomerase deficiency NGS Genetic Test
Short Name: TPI1 Deficiency NGS Test
Also known as: TPI Deficiency, Triosephosphate Isomerase Deficiency
TPI1 Gene Hemolytic anemia due to triosephosphate isomerase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Genetic Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the TPI1 Gene Hemolytic Anemia NGS Genetic Test is to diagnose triosephosphate isomerase (TPI) deficiency by detecting mutations in the TPI1 gene. This helps confirm the cause of hemolytic anemia, guide treatment decisions, and facilitate genetic counseling for affected individuals and their families.
- Test Code
- 5586
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Genetic Sequencing
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture or using an FTA card for one drop of blood.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples as instructed for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the TPI1 Gene Hemolytic Anemia NGS Genetic Test is to diagnose triosephosphate isomerase (TPI) deficiency by detecting mutations in the TPI1 gene. This helps confirm the cause of hemolytic anemia, guide treatment decisions, and facilitate genetic counseling for affected individuals and their families.
How to Prepare
- Fast for 8-12 hours if specified, though not typically required
- Bring identification and test requisition form
- Inform the phlebotomist of any medications or recent transfusions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for TPI deficiency is essential for timely management and family counseling, especially in cases of unexplained hemolytic anemia."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient volume
- Improperly labeled samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of TPI deficiency. Consult a hematologist for management.
Negative for pathogenic variant
No mutations detected. Consider other causes of hemolytic anemia.
Variant of uncertain significance
Further testing or family studies may be needed.
Consult a doctor if you experience symptoms like persistent anemia, fatigue, jaundice, or have a family history of TPI deficiency. After testing, discuss results with a genetic counselor or hematologist for personalized care.
Limitations
- ⚠May not detect all rare variants
- ⚠Results require clinical correlation
- ⚠Does not rule out other causes of hemolytic anemia
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●No significant risks associated with genetic testing itself
Interfering Factors
- ●Poor sample quality
- ●Contaminated DNA
- ●Recent blood transfusions may affect results
Frequently Asked Questions
What is TPI deficiency?
How is TPI deficiency diagnosed?
What are the symptoms of TPI deficiency?
What is the cost of the TPI1 Gene NGS Genetic Test?
Is home collection available for this test?
How long does it take to get results?
What sample types are accepted?
Is fasting required before the test?
Can this test be used for prenatal diagnosis?
What treatments are available for TPI deficiency?
Is genetic counseling recommended?
How accurate is the NGS genetic test?
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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