TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic Test
Short Name: TWNK MDDS7 NGS Test
Also known as: MDDS7 Test, TWNK Gene Sequencing
TWNK Gene Mitochondrial DNA depletion syndrome type 7 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 Reports available 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 identify pathogenic mutations in the TWNK gene that cause Mitochondrial DNA depletion syndrome type 7, enabling accurate diagnosis, informed medical management, and genetic counseling.
- Test Code
- 1732
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports available in 3 to 4 weeks.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and family history. Attend a genetic counseling session to draw a pedigree chart.
Method: Venipuncture or finger-prick for FTA card
Laboratory Analysis
Sample collection via blood draw or saliva/finger-prick for FTA card.
Report Delivery
Sample sent to lab for NGS analysis. Reports delivered in 3-4 weeks.
Timeline: Reports available in 3 to 4 weeks.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the TWNK gene that cause Mitochondrial DNA depletion syndrome type 7, enabling accurate diagnosis, informed medical management, and genetic counseling.
How to Prepare
- Fast for 8 hours if required for blood draw
- Use sterile equipment for collection
- Label samples correctly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for TWNK gene mutations is crucial for timely diagnosis and management of Mitochondrial DNA depletion syndrome type 7, especially in children with neurological symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient volume
- Incorrect labeling
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of MDDS7. Genetic counseling recommended for family planning.
Variant of uncertain significance
Further clinical correlation and family studies needed.
No pathogenic variant detected
MDDS7 unlikely, but symptoms may be due to other causes. Consider additional tests.
Consult a neurologist or geneticist if experiencing symptoms like muscle weakness, seizures, or developmental delays, especially with family history of mitochondrial disorders.
Limitations
- ⚠Test only covers TWNK gene; other mitochondrial genes not analyzed
- ⚠Results require interpretation by a genetic counselor
Risks & Considerations
- ●Minor bruising at blood draw site
- ●Rare infection risk
Frequently Asked Questions
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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.
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