FAH Gene Tyrosinemia type 1 NGS Genetic Test
Short Name: FAH Tyrosinemia Type 1 NGS Test
Also known as: Tyrosinemia Type I, Hereditary Tyrosinemia Type 1, FAH Deficiency
FAH Gene Tyrosinemia type 1 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 to 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
The purpose of the FAH Gene Tyrosinemia Type 1 NGS Genetic Test is to detect mutations in the FAH gene associated with Tyrosinemia Type 1, enabling early diagnosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and families.
- Test Code
- 2266
- 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 Technology
Sample Collection
No special preparation required. Provide clinical history and genetic counseling for pedigree chart.
Method: Venipuncture
Laboratory Analysis
Blood sample drawn via venipuncture or FTA card for DNA extraction.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Sample sent to lab for analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the FAH Gene Tyrosinemia Type 1 NGS Genetic Test is to detect mutations in the FAH gene associated with Tyrosinemia Type 1, enabling early diagnosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and families.
How to Prepare
- Use sterile equipment for blood collection
- Label samples correctly with patient details
- Store FTA cards at room temperature
- Avoid hemolysis during blood draw
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for FAH gene mutations is crucial for early intervention in Tyrosinemia Type 1, preventing severe complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Improperly labeled samples
- Insufficient sample volume
- Samples with visible contamination
Understanding Your Results
Pathogenic mutation detected
High likelihood of Tyrosinemia Type 1; recommend clinical correlation and treatment.
No pathogenic mutation detected
Tyrosinemia Type 1 unlikely based on genetic analysis; consider other diagnoses.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed; genetic counseling advised.
Consult a doctor if experiencing symptoms like jaundice, poor growth, abdominal pain, or neurological issues, especially with a family history of metabolic disorders.
Limitations
- ⚠Test only detects known mutations in the FAH gene
- ⚠May not identify all genetic variants or epigenetic factors
- ⚠Results should be correlated with clinical findings and family history
Risks & Considerations
- ●Minor bruising or pain at puncture site
- ●Infection risk (very low)
- ●Psychological impact of genetic results
Interfering Factors
- ●Degraded DNA sample
- ●Contamination during collection
- ●Insufficient sample volume
- ●Recent blood transfusions
Frequently Asked Questions
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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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