HADHA Gene Trifunctional protein deficiency NGS Genetic Test
Short Name: HADHA Gene Test
Also known as: HADHA Deficiency, Trifunctional Protein Deficiency, LCHAD Deficiency
HADHA 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose HADHA gene trifunctional protein deficiency by identifying mutations in the HADHA gene, aiding in the management and treatment of the disorder.
- Test Code
- 2264
- 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
Provide detailed clinical and family history. A genetic counseling session is recommended to draw a pedigree chart.
Method: Venipuncture for blood, or saliva collection
Laboratory Analysis
A blood sample will be collected via venipuncture from the arm. For saliva collection, follow instructions provided.
Report Delivery
Apply gentle pressure to the puncture site. Resume normal activities. Results will be available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose HADHA gene trifunctional protein deficiency by identifying mutations in the HADHA gene, aiding in the management and treatment of the disorder.
How to Prepare
- Ensure proper identification
- Follow fasting instructions if any
- Use the provided sample kit
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for HADHA deficiency is essential for diagnosis and management. If symptoms such as low blood sugar or muscle weakness are observed, consult a genetic counselor."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Improperly labeled samples
Understanding Your Results
Consult a doctor or genetic counselor if symptoms like persistent low blood sugar, muscle weakness, or developmental delays are present, or if there is a family history of metabolic disorders.
Limitations
- ⚠Test may not detect all possible mutations
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw: bruising, pain, or infection at the puncture site
Interfering Factors
- ●Hemolyzed blood samples
- ●Insufficient sample volume
Frequently Asked Questions
What is HADHA gene trifunctional protein deficiency?
What are the symptoms of this disorder?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get the results?
What do the results mean?
Can this test detect other genetic disorders?
Is genetic counseling included in the test cost?
What sample types are accepted?
Is the test painful?
What should I do if the test is positive?
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