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TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test

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TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test

Short Name: TPI1 NGS Genetic Test

Also known as: TPI deficiency test, Triosephosphate isomerase gene analysis, TPI1 mutation screening

TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-generation sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the TPI1 gene for accurate diagnosis of triosephosphate isomerase deficiency, guiding treatment decisions, genetic counseling, and family risk assessment.

Test Code
2267
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-generation sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session is recommended to draw a pedigree chart of affected family members. Provide clinical history of the patient.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw procedure using sterile equipment. For FTA card, a single drop of blood is sufficient.

Step 3

Report Delivery

Sample is labeled, stored at ambient room temperature, and transported to the lab for DNA extraction and sequencing.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review. No fasting required.
2
During the Test:DNA extraction from blood or DNA sample, followed by NGS sequencing of the TPI1 gene.
3
After the Test:Data analysis, variant interpretation, and report generation with genetic counseling.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the TPI1 gene for accurate diagnosis of triosephosphate isomerase deficiency, guiding treatment decisions, genetic counseling, and family risk assessment.

How to Prepare

  • Use sterile collection tubes
  • Label sample with patient details
  • Avoid hemolysis
  • Store at room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is essential for families with a history of metabolic disorders, aiding in early diagnosis, carrier testing, and informed reproductive decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood: up to 48 hours at room temperature
DNA: stable for years if stored properly at -20°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Incorrectly labeled samples
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TPI1 gene. Interpretation should be done by a qualified geneticist or physician.
Positive: Pathogenic mutation detected, confirming diagnosis
Negative: No pathogenic mutations found, reducing likelihood
Variant of uncertain significance (VUS): Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

If symptoms of TPI deficiency are present, or if there is a family history of the disorder. Consult immediately for positive results or genetic counseling.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results may vary based on gene coverage

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Low risk of infection
  • ●No significant health risks

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Insufficient sample volume

Compare With Similar Tests

TestTPI1 Gene Triosephosphate isomerase deficiency NGS Genetic TestSanger sequencingWhole exome sequencingBiochemical enzyme assay
ComparisonTPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test

Frequently Asked Questions

What is TPI1 gene triosephosphate isomerase deficiency?
It is a rare genetic disorder caused by mutations in the TPI1 gene, leading to deficiency of the triosephosphate isomerase enzyme, which disrupts glycolysis and causes various symptoms.
What are the common symptoms of this disorder?
Symptoms include developmental delay, intellectual disability, seizures, muscle weakness, anemia, jaundice, enlarged spleen and liver, and recurrent infections.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze the TPI1 gene from a blood or DNA sample, detecting mutations accurately.
What is the cost of the TPI1 NGS genetic test?
The test costs INR 20,000 at DNA Labs India, which includes sequencing, genetic counseling, and report generation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks from sample receipt.
What samples are required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How accurate is the NGS genetic test?
NGS provides high accuracy with a mutation detection rate over 99% for known variants in the TPI1 gene.
Can this test be used for carrier testing?
Yes, it can identify carriers of TPI1 mutations, which is useful for family planning and genetic counseling.
What should I do if the test is positive?
Consult a geneticist or physician for further evaluation, management options, and genetic counseling for the family.
Is genetic counseling provided with the test?
Yes, DNA Labs India includes a genetic counseling session as part of the test package to help interpret results and draw family pedigree charts.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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