TAT Gene Tyrosinemia type 2 NGS Genetic Test
Short Name: TAT Gene Tyrosinemia Type 2 NGS Test
TAT Gene Tyrosinemia type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To detect mutations in the TAT gene for diagnosing Tyrosinemia Type 2, enabling early treatment and management to prevent complications.
- Test Code
- 2269
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide clinical history of the patient and undergo a genetic counselling session to draw a pedigree chart of family members affected with Tyrosinemia Type 2.
Method: Blood Draw
Laboratory Analysis
A blood sample is collected via venipuncture or using a FTA card for DNA extraction.
Report Delivery
The sample is processed in the laboratory for NGS analysis, and results are reported within the turnaround time.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the TAT gene for diagnosing Tyrosinemia Type 2, enabling early treatment and management to prevent complications.
How to Prepare
- Ensure proper sample labeling
- Avoid contamination
- Use sterile equipment
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for Tyrosinemia Type 2 can lead to timely management and improved outcomes, especially in pediatric cases with symptoms like poor weight gain or developmental delay."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Insufficient sample volume
- Improper storage or transport
- Hemolyzed sample
Understanding Your Results
Positive
Pathogenic variant detected, confirming diagnosis of Tyrosinemia Type 2. Requires genetic counselling and medical management.
Negative
No pathogenic variants detected. Clinical correlation is advised if symptoms persist.
Variant of Uncertain Significance
Genetic variant found but significance is unclear. Further testing or family studies may be recommended.
If symptoms of Tyrosinemia Type 2 are present, or if there is a family history of the disorder, consult a geneticist or metabolic specialist for evaluation and testing.
Limitations
- ⚠May not detect all genetic variants
- ⚠Requires integration with clinical history and genetic counselling
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection
Interfering Factors
- ●Degraded DNA sample
- ●Contamination during collection
Compare With Similar Tests
| Test | TAT Gene Tyrosinemia type 2 NGS Genetic Test | Amino Acid Profile Test | Liver Function Test | Newborn Screening using Tandem Mass Spectrometry |
|---|---|---|---|---|
| Comparison | TAT Gene Tyrosinemia type 2 NGS Genetic Test |
Frequently Asked Questions
What is Tyrosinemia Type 2?
What are the common symptoms of Tyrosinemia Type 2?
How is Tyrosinemia Type 2 diagnosed?
What does the TAT Gene NGS Genetic Test involve?
What is the cost of the TAT Gene Tyrosinemia Type 2 NGS Genetic Test?
How long does it take to get the test results?
Is fasting required for this test?
Can the test be done at home?
What should I do if the test results are positive?
Is this test covered by insurance?
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Reference Laboratory Services
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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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