IVD Gene Isovaleric acidemia NGS Genetic Test
Short Name: IVD Gene Isovaleric Acidemia Test
Also known as: IVA Genetic Test, Isovaleric Acidemia NGS Test, IVD Gene Mutation Analysis
IVD Gene Isovaleric acidemia 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a diagnosis of isovaleric acidemia by detecting pathogenic variants in the IVD gene, guide treatment decisions, assess carrier status for family members, and support genetic counseling for inheritance patterns.
- Test Code
- 4715
- 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
Provide clinical history and undergo genetic counseling. No specific fasting required, but follow any instructions from the healthcare provider.
Method: Venipuncture or FTA Card
Laboratory Analysis
A blood sample will be drawn from a vein in the arm, or a drop of blood may be collected on an FTA card. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities. Results will be available in 3-4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a diagnosis of isovaleric acidemia by detecting pathogenic variants in the IVD gene, guide treatment decisions, assess carrier status for family members, and support genetic counseling for inheritance patterns.
How to Prepare
- Ensure proper identification of the patient
- Use sterile equipment for blood draw
- Label samples correctly with patient details
- Store samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for isovaleric acidemia is crucial for timely management, dietary interventions, and family planning to prevent complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or contaminated samples
- Incorrect labeling or insufficient volume
- Samples not stored at recommended conditions
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of isovaleric acidemia. Immediate medical management and dietary changes are recommended.
Negative for pathogenic variant
No mutations detected in the IVD gene. Consider other causes or repeat testing if symptoms persist.
Variant of uncertain significance
Genetic variant found but not clearly linked to disease. Further family studies and clinical correlation are advised.
Consult a doctor if you experience symptoms like poor feeding, vomiting, lethargy, seizures, or a musty odor, especially in children. Also, consult for genetic counseling if there is a family history of metabolic disorders.
Limitations
- ⚠May not detect all possible genetic variants
- ⚠Requires correlation with clinical symptoms and biochemical tests
- ⚠Results should be interpreted by a genetic specialist
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity
- ●Technical errors in sequencing
Frequently Asked Questions
What is IVD gene isovaleric acidemia?
How is the IVD Gene Isovaleric Acidemia NGS Genetic 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 isovaleric acidemia?
Who should consider this test?
Is genetic counseling required?
What sample type is needed?
Are there any risks associated with the test?
How accurate is the NGS genetic test?
What should I do if the test is positive?
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.
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