HPD Gene Tyrosinemia type 3 NGS Genetic Test
Short Name: HPD Gene Tyrosinemia Type 3 NGS Test
HPD Gene Tyrosinemia type 3 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. 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
To identify pathogenic mutations in the HPD gene for the diagnosis of Tyrosinemia Type 3, enabling early intervention, management, and genetic counseling.
- Test Code
- 2268
- 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)
Sample Collection
No specific preparation required, but avoid eating or drinking for 30 minutes before blood collection if fasting is indicated.
Method: Venipuncture or DNA extraction kit
Laboratory Analysis
A blood sample will be drawn from a vein in the arm, or a DNA sample will be collected using a kit.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the HPD gene for the diagnosis of Tyrosinemia Type 3, enabling early intervention, management, and genetic counseling.
How to Prepare
- Ensure sample is properly labeled
- Use sterile equipment
- Transport sample at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Tyrosinemia Type 3 can aid in timely management and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample hemolysis
- Incorrect container
- Insufficient volume
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of Tyrosinemia Type 3. Genetic counseling and management recommended.
Negative for pathogenic mutation
No mutation detected; clinical correlation advised if symptoms persist.
If symptoms such as developmental delays, liver issues, or seizures are present, or if there is a family history of Tyrosinemia Type 3.
Limitations
- ⚠May not detect all possible genetic variants
- ⚠Requires interpretation by a genetic counselor
- ⚠Results are for diagnostic confirmation only
Risks & Considerations
- ●Psychological impact of results
- ●Minimal risk from blood draw (bruising, infection)
Interfering Factors
- ●Contaminated DNA sample
- ●Inadequate sample volume
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | HPD Gene Tyrosinemia type 3 NGS Genetic Test | Tyrosinemia Type 1 Genetic Test | Amino Acid Profile | Liver Function Test |
|---|---|---|---|---|
| Comparison | HPD Gene Tyrosinemia type 3 NGS Genetic Test | Tests for mutations in the FAH gene, associated with a different form of tyrosinemia. | Measures amino acid levels in blood, not specific genetic mutations. | Assesses liver health but does not diagnose genetic disorders. |
Frequently Asked Questions
What is the HPD Gene Tyrosinemia Type 3 NGS Genetic Test?
What are the symptoms of Tyrosinemia Type 3?
How is the test performed?
What is the cost of the test in India?
Is fasting required before the test?
How long does it take to get results?
Is the test accurate?
What does a positive result mean?
Can the test be done on children?
Is home sample collection available?
What should I do if I have symptoms?
Are raw data files provided with the report?
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