KARS1 Gene CMTRIB NGS Genetic Test
Short Name: KARS1 CMTRIB NGS
Also known as: KARS1 gene mutation test, KARS1 targeted NGS test, CMTRIB genetic test, Lysyl-tRNA synthetase gene test
KARS1 Gene CMTRIB 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 typically available 3 to 4 weeks after the sample is received at the laboratory. Reports will be shared through the online portal, email and WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The KARS1 Gene CMTRIB NGS Genetic Test is used to detect disease-causing variants in the KARS1 gene, supporting the diagnosis of KARS1-associated CMTRIB and related inherited neurological disorders. It also helps in carrier testing for at-risk family members after a familial variant has been identified.
- Test Code
- 3978
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available 3 to 4 weeks after the sample is received at the laboratory. Reports will be shared through the online portal, email and WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. The treating doctor should provide a clinical summary. Please share available family history and, if known, the specific familial KARS1 variant to aid targeted interpretation.
Method: Blood draw / DNA submission / FTA card spot
Laboratory Analysis
A small volume of venous blood may be collected by a trained phlebotomist. If using an FTA card, one drop of blood is spotted onto the card and allowed to dry. Extracted DNA may also be submitted in a sterile labelled tube.
Report Delivery
No special precautions are needed. The patient may resume regular diet, activity and medications unless advised otherwise by the treating physician.
Timeline: Reports are typically available 3 to 4 weeks after the sample is received at the laboratory. Reports will be shared through the online portal, email and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The KARS1 Gene CMTRIB NGS Genetic Test is used to detect disease-causing variants in the KARS1 gene, supporting the diagnosis of KARS1-associated CMTRIB and related inherited neurological disorders. It also helps in carrier testing for at-risk family members after a familial variant has been identified.
How to Prepare
- Provide the patient’s complete clinical history and a three-generation pedigree if possible.
- Use a labelled EDTA tube for whole blood collection.
- For FTA cards, ensure the blood spot is thoroughly dried before packaging.
- Store whole blood samples at 2-8°C before transport; do not freeze whole blood.
- Extracted DNA should be stored frozen until dispatch.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"A confirmed genetic diagnosis in KARS1-associated CMTRIB helps families understand recurrence risk, guides surveillance for neurological complications, and enables targeted testing of at-risk relatives."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Unlabelled or mislabelled sample
- Insufficient sample volume
- DNA quality below laboratory threshold
- Sample received in inappropriate container
Understanding Your Results
Pathogenic or Likely Pathogenic variant detected
Supports a molecular diagnosis of KARS1-associated CMTRIB or related KARS1 phenotype. Genetic counselling and family segregation testing are recommended.
Variant of Uncertain Significance (VUS) detected
The variant cannot yet be classified as disease-causing or benign. Additional family studies and clinical correlation may help clarify its significance.
No Pathogenic or Likely Pathogenic variant detected
Reduces the likelihood that a detectable KARS1 variant is the cause, but does not exclude other genetic or non-genetic causes.
If the test result is positive, if a variant of uncertain significance is reported, or if symptoms persist despite a negative result, consult a clinical geneticist or neurologist to discuss the result, recurrence risk and further management.
Limitations
- ⚠This is a targeted single-gene test, not a whole-genome screen.
- ⚠Large structural rearrangements, deep intronic variants and complex repeat expansions may not be detected.
- ⚠A negative result does not exclude a genetic cause in other genes.
- ⚠A variant of uncertain significance may require additional family studies before clinical action.
- ⚠Results should always be correlated with clinical findings and electrophysiological studies.
Risks & Considerations
- ●Minor pain or bruising at the venipuncture site
- ●Rare vasovagal episode during blood collection
- ●FTA card collection carries minimal physical risk
Interfering Factors
- ●Maternal cell contamination in cord or blood samples
- ●Poor DNA quality or quantity
- ●Sample mislabelling or mix-up
- ●Incomplete clinical and family history
- ●Variants in regions not adequately covered by targeted sequencing
Compare With Similar Tests
| Test | KARS1 Gene CMTRIB NGS Genetic Test | KARS1 Single Gene NGS | Charcot-Marie-Tooth NGS Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | KARS1 Gene CMTRIB NGS Genetic Test |
Frequently Asked Questions
What is the KARS1 Gene CMTRIB NGS Genetic Test?
What is CMTRIB?
What symptoms are associated with KARS1 gene mutations?
Who should take this test?
What sample is required for this test?
Why is NGS used for this genetic test?
How long does the test take?
Is fasting required before the test?
What is the cost of the KARS1 Gene CMTRIB NGS Genetic Test?
Do I get the raw data files with my report?
What does a negative result mean?
Should I have genetic counselling after the test?
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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.
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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