TAZ Gene Barth syndrome NGS Genetic Test
Short Name: Barth Syndrome NGS Test
Also known as: TAZ Gene Test, Barth Syndrome Genetic Test, Tafazzin Gene Test
TAZ Gene Barth syndrome 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
To diagnose Barth Syndrome by identifying mutations in the TAZ gene using NGS technology, enabling accurate clinical management and family planning.
- Test Code
- 5188
- 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 affected family members are required.
Method: Venipuncture or FTA Card
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card by a trained phlebotomist.
Report Delivery
Sample is labeled, stored appropriately, and transported to the lab for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Barth Syndrome by identifying mutations in the TAZ gene using NGS technology, enabling accurate clinical management and family planning.
How to Prepare
- Provide detailed clinical history
- Attend genetic counseling session prior to testing
- Ensure proper identification and sample labeling
- Follow standard phlebotomy procedures
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"NGS testing for the TAZ gene is essential for accurate diagnosis of Barth Syndrome and carrier testing in families, guiding management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Barth Syndrome in symptomatic individuals or carrier status in asymptomatic females.
No pathogenic variant detected
Barth Syndrome is unlikely, but clinical correlation is advised if symptoms persist; consider other differential diagnoses.
If symptoms such as cardiomyopathy, muscle weakness, or recurrent infections are present, or if there is a family history of Barth Syndrome, consult a genetic counselor or healthcare provider for testing and management.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Results require clinical correlation and genetic counseling
- ⚠Cannot predict disease severity or progression
Risks & Considerations
- ●Minor bruising or pain at the blood collection site
- ●Rare risk of infection or hematoma
Frequently Asked Questions
What is Barth Syndrome?
What causes Barth Syndrome?
What are the symptoms of Barth Syndrome?
How is Barth Syndrome diagnosed?
What is NGS Genetic Testing?
How does the TAZ Gene test work?
What is the cost of the TAZ Gene Barth Syndrome NGS Genetic Test?
Is home sample collection available?
How long does it take to get the results?
Is genetic testing covered by insurance?
Who should consider this test?
What should I do before getting tested?
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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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