FH Gene Fumarase deficiency NGS Genetic Test
Short Name: FH Gene Test
Also known as: Fumarase Deficiency Genetic Test, FH Gene Mutation Analysis, Fumarase Enzyme Deficiency Test
FH Gene Fumarase 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. 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 diagnose Fumarase Deficiency by detecting pathogenic mutations in the FH gene using NGS technology.
- Test Code
- 1995
- 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
Genetic counseling recommended to discuss test implications and family history.
Method: Blood draw or FTA card spot
Laboratory Analysis
Sample collected by a trained phlebotomist using sterile techniques for blood or FTA card.
Report Delivery
Sample is labeled correctly and transported to the laboratory under controlled temperature conditions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Fumarase Deficiency by detecting pathogenic mutations in the FH gene using NGS technology.
How to Prepare
- For blood: Use EDTA tube and mix gently
- For FTA card: Apply one drop of blood and air dry
- Store samples at room temperature if immediate transport is not possible
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for early and accurate diagnosis of Fumarase Deficiency, enabling timely management and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect or missing patient identification
Understanding Your Results
Consult a doctor if symptoms of Fumarase Deficiency are present or if there is a family history of the disorder.
Limitations
- ⚠Detection limited to known mutations in the FH gene
- ⚠False negatives possible due to technical issues
- ⚠Requires interpretation by a genetic specialist
Risks & Considerations
- ●Minimal risk associated with blood draw, such as bruising or infection
- ●Psychological impact of genetic test results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample collection
Compare With Similar Tests
| Test | FH Gene Fumarase deficiency NGS Genetic Test | Organic Acid Test | Enzyme Assay |
|---|---|---|---|
| Comparison | FH Gene Fumarase deficiency NGS Genetic Test | Measures urinary fumaric acid but less specific than genetic testing | Directly measures fumarase enzyme activity but requires tissue samples |
Frequently Asked Questions
What is FH Gene Fumarase Deficiency?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What are the symptoms of Fumarase Deficiency?
Who should consider this test?
Is the test accurate?
What does a positive result mean?
Can the test detect carriers?
Is genetic counseling needed?
How can I book the test?
Related Tests
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.
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.