HADHB Gene Trifunctional protein deficiency NGS Genetic Test
Short Name: HADHB NGS Test
Also known as: HADHB Deficiency, Trifunctional Protein Deficiency Genetic Test
HADHB Gene Trifunctional protein 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 HADHB gene mutations causing trifunctional protein deficiency, enabling early intervention and management of this inherited metabolic disorder.
- Test Code
- 2652
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- Yes (8 hours)
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Fasting for 8-12 hours may be required. Provide clinical history and family pedigree information.
Method: Venipuncture or FTA Card
Laboratory Analysis
A blood sample will be drawn from a vein in the arm or a drop of blood collected on an FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless advised otherwise.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose HADHB gene mutations causing trifunctional protein deficiency, enabling early intervention and management of this inherited metabolic disorder.
How to Prepare
- Fast for 8-12 hours before the test if specified
- Bring identification and prescription
- Inform the technician of any medications or health conditions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS genetic test is essential for early diagnosis of HADHB gene mutations, enabling timely management and genetic counseling for families affected by trifunctional protein deficiency."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or hemolyzed samples
- Incorrect labeling
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of HADHB gene trifunctional protein deficiency. Consult a genetic counselor for management.
Negative for mutations
No mutations detected in the HADHB gene. Consider other genetic or metabolic disorders if symptoms persist.
Variant of uncertain significance
Further testing and family studies may be required. Genetic counseling recommended.
Consult a doctor immediately if symptoms such as recurrent hypoglycemia, muscle weakness, or developmental delays are observed, especially in infants or children with a family history of metabolic disorders.
Limitations
- ⚠May not detect all possible mutations in the HADHB gene
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not rule out other genetic disorders
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Rare allergic reaction to antiseptic
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusions
Frequently Asked Questions
What is HADHB gene trifunctional protein deficiency?
What are the common symptoms of this deficiency?
How is the HADHB gene deficiency diagnosed?
What is the cost of the NGS Genetic Test at DNA Labs India?
What sample types are accepted for this test?
Is fasting required before the test?
How long does it take to get the results?
What does a positive result mean?
Can this test be done for newborns?
Is home sample collection available?
What should I do if the test is negative but symptoms persist?
How accurate is the NGS genetic test?
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