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GSTZ1 Gene Tyrosinemia type 1B NGS Genetic Test

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GSTZ1 Gene Tyrosinemia type 1B NGS Genetic Test

Also known as: GSTZ1 Sequencing Test, Tyrosinemia Type 1B Genetic Test

GSTZ1 Gene Tyrosinemia type 1B NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation 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.

NGS Genetic TestUnisexAll Ages🏠 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 identify mutations in the GSTZ1 gene for definitive diagnosis of Tyrosinemia Type 1B, guiding treatment decisions and genetic counseling.

Test Code
2270
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
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Consult with a genetic counselor if needed. No special preparation required.

Method: Venipuncture for blood or finger-prick for FTA card

Step 2

Laboratory Analysis

Blood sample drawn via venipuncture or finger-prick for FTA card as per standard procedures.

Step 3

Report Delivery

Apply pressure to the puncture site. The sample will be sent to the lab for processing.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss implications.
2
During the Test:Sample collection as per instructions; procedure is minimally invasive.
3
After the Test:Results analyzed and reported online within 3-4 weeks.

About This Test

Who Should Get This Test

To identify mutations in the GSTZ1 gene for definitive diagnosis of Tyrosinemia Type 1B, guiding treatment decisions and genetic counseling.

How to Prepare

  • Avoid eating or drinking if specified by healthcare provider
  • Provide accurate clinical history and family information
  • Ensure proper labeling and handling of samples

Doctor's Notes

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

"Early genetic testing for Tyrosinemia Type 1B is crucial for timely treatment and family planning, especially in high-risk pregnancies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerBlood in EDTA tube or FTA card
Collection MethodVenipuncture for blood or finger-prick for FTA card

Sample Stability

Blood sample stable at room temperature for up to 24 hours
FTA card sample stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or contaminated sample
  • Insufficient sample volume
  • Improper storage or labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the GSTZ1 gene.
Negative: No pathogenic variants detected, suggesting normal GSTZ1 gene function
Positive: Pathogenic variant detected, consistent with diagnosis of Tyrosinemia Type 1B
Variant of uncertain significance (VUS): Further testing or family studies recommended
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms persist, if there is a family history of metabolic disorders, or for genetic counseling after test results.

Limitations

  • ⚠Cannot detect all types of genetic mutations (e.g., large deletions)
  • ⚠Results may require confirmation with additional methods
  • ⚠Genetic variants of uncertain significance (VUS) may be identified

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or discomfort
  • ●In rare cases, infection at puncture site
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolysis in blood sample

Compare With Similar Tests

TestGSTZ1 Gene Tyrosinemia type 1B NGS Genetic TestSanger SequencingBiochemical Tests
ComparisonGSTZ1 Gene Tyrosinemia type 1B NGS Genetic TestNGS is more comprehensive and cost-effective for multiple variantsGenetic test provides definitive diagnosis, while biochemical tests are indirect

Frequently Asked Questions

What is GSTZ1 Gene Tyrosinemia Type 1B?
It is a genetic disorder caused by mutations in the GSTZ1 gene, leading to impaired tyrosine metabolism and toxic accumulation in organs.
What are the common symptoms of Tyrosinemia Type 1B?
Symptoms include jaundice, liver enlargement, abdominal pain, renal tubular dysfunction, and developmental delay.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the GSTZ1 gene from a blood or DNA sample, identifying mutations accurately.
What is the cost of the test?
The cost is INR 20000.0, including home sample collection and genetic counseling.
Is home sample collection available?
Yes, we offer free home sample collection across India for this test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates pathogenic mutations in the GSTZ1 gene, confirming diagnosis of Tyrosinemia Type 1B.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal testing in at-risk pregnancies, but requires genetic counseling.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, such as bruising or infection in rare cases.
How accurate is the NGS test?
NGS is highly accurate for detecting genetic variants, but results should be interpreted by a genetic specialist.
What is the role of genetic counseling?
Genetic counseling helps understand test implications, recurrence risks, and management options for patients and families.
Is the test covered by insurance?
Coverage varies by insurance provider; check with your insurer for details on genetic testing coverage.
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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