MT-TW Gene Encephalopathy mitochondrial, MT-TW related NGS Genetic Test
Short Name: MT-TW NGS Genetic Test
Also known as: MT-TW related mitochondrial encephalopathy, MT-TW-associated mitochondrial disorder, Mitochondrial encephalopathy due to MT-TW gene mutation
MT-TW Gene Encephalopathy mitochondrial, MT-TW related 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 are available within 3 to 4 weeks after the sample reaches the laboratory.. 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 NGS genetic test is to detect disease-causing variants in the MT-TW gene, confirm a clinical diagnosis of MT-TW gene encephalopathy mitochondrial, help guide treatment and monitoring decisions, and provide information for family counselling regarding maternal inheritance and recurrence risk.
- Test Code
- 4060
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Fasting is not required. Carry the patient’s clinical records, referral note, and identification. A genetic counselling session to draw a pedigree chart of family members affected with MT-TW gene encephalopathy mitochondrial is recommended before testing.
Method: Blood collection or FTA card spot or extracted DNA submission
Laboratory Analysis
A healthcare professional collects blood into an EDTA tube or spots one drop of blood on an FTA card. If extracted DNA is submitted, it should be accompanied by a properly labelled vial and requisition form.
Report Delivery
No dietary restrictions. The patient can return to normal routine. The sample will be transported to the laboratory for NGS analysis.
Timeline: Reports are available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect disease-causing variants in the MT-TW gene, confirm a clinical diagnosis of MT-TW gene encephalopathy mitochondrial, help guide treatment and monitoring decisions, and provide information for family counselling regarding maternal inheritance and recurrence risk.
How to Prepare
- EDTA blood is preferred for NGS testing
- FTA card spot is acceptable for infants and difficult venous access
- Extracted DNA should be in a labelled vial with quantity and quality noted
- Maintain sample integrity during transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A vital part of mitochondrial disease evaluation is understanding maternal inheritance and heteroplasmy. Genetic counselling before and after testing helps families understand recurrence risk and the importance of clinical correlation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample quantity
- Improper or missing labelling
- Clotted blood or severe haemolysis
- Sample received in wrong container
Understanding Your Results
A pathogenic or likely pathogenic variant is identified in the MT-TW gene. This supports the diagnosis of MT-TW gene encephalopathy mitochondrial.
No pathogenic or likely pathogenic variant was detected in the MT-TW gene. However, this does not completely exclude all mitochondrial diseases.
A genetic variant was found but its clinical significance is unclear. Additional family studies or functional analysis may be recommended.
If a mitochondrial variant is detected, the level of heteroplasmy may be reported to assist in clinical correlation.
If you or your child have unexplained muscle weakness, seizures, developmental delay or regression, vision/hearing impairment, or cardiac/respiratory problems, consult a neurologist or clinical geneticist. Early genetic testing can help in diagnosis and management.
Limitations
- ⚠This targeted NGS test does not detect all mitochondrial disorders.
- ⚠Low-level heteroplasmy may not be detected depending on assay sensitivity.
- ⚠Large mitochondrial DNA deletions or structural rearrangements may not be detected by this targeted test.
- ⚠Variants of uncertain significance may require additional family testing and functional studies.
- ⚠A negative result does not exclude a mitochondrial disease caused by other genes.
Risks & Considerations
- ●Mild pain or bruising at the venipuncture site
- ●Rare bleeding or infection at the puncture site
- ●No significant genetic testing risks beyond blood collection
Interfering Factors
- ●Heteroplasmy level below the limit of detection
- ●Poor DNA quality due to improper storage or transport
- ●Maternal mosaicism
- ●Sample contamination during extraction or processing
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Frequently Asked Questions
What is MT-TW gene encephalopathy mitochondrial?
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What is the cost of the MT-TW related NGS genetic test?
What sample is required for this test?
Is fasting required before the MT-TW NGS genetic test?
How long does it take to get the report?
Are raw data, FASTQ, and VCF files provided?
What technology is used for this test?
Is genetic counselling necessary before the test?
What does a negative result mean?
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