FH Gene Fumarase deficiency NGS Genetic Test
Short Name: FH Gene Fumarase Deficiency Test
Also known as: Fumarase Deficiency Genetic Test, FH Gene Mutation Test, Fumarase Deficiency NGS Test
FH Gene Fumarase deficiency 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 3, 2026
Overview
The purpose of this test is to diagnose Fumarase Deficiency by detecting pathogenic variants in the FH gene using NGS technology, aiding in clinical management and genetic counseling.
- Test Code
- 2743
- 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
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Fumarase Deficiency.
Method: Venipuncture for blood, or saliva collection
Laboratory Analysis
Blood sample collected via venipuncture or saliva sample obtained painlessly.
Report Delivery
Sample sent to laboratory for NGS analysis; results reviewed by geneticists.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Fumarase Deficiency by detecting pathogenic variants in the FH gene using NGS technology, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure proper sample labeling
- Follow aseptic techniques
- Store samples at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis is essential for managing Fumarase Deficiency, enabling timely interventions and family counseling."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient volume
- Improper labeling
Understanding Your Results
No pathogenic variants
Normal; no evidence of Fumarase Deficiency
Pathogenic variant detected
Confirms diagnosis; genetic counseling recommended
If symptoms such as seizures, developmental delays, or hypotonia are present, or if there is a family history of Fumarase Deficiency.
Limitations
- ⚠May not detect all rare variants
- ⚠Requires genetic counseling for interpretation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
Frequently Asked Questions
What is FH Gene Fumarase Deficiency?
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Is home sample collection available?
How long does it take to get results?
Who should consider this test?
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₹20,000Reference 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.
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