GARS1 Gene Neuronopathy distal hereditary motor type 5 NGS Genetic Test
Short Name: GARS1 dHMN5 NGS
Also known as: GARS1 Gene Sequencing, Distal Hereditary Motor Neuropathy Type 5 Genetic Test, dHMN5 NGS Panel, GARS1-Related Neuronopathy Genetic Test
GARS1 Gene Neuronopathy distal hereditary motor type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger confirmation for detected variants on Blood or Extracted DNA or One drop blood on FTA Card samples. Results in Results are available 3 to 4 weeks after the sample is received by 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 pathogenic or likely pathogenic mutations in the GARS1 gene, thereby confirming the clinical diagnosis of distal hereditary motor neuronopathy type 5. The test aids in early intervention, genetic counseling, and recurrence risk assessment in affected families.
- Test Code
- 4422
- CPT Code
- N/A
- ICD Code
- N/A
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop blood on FTA Card
- Result Time
- Results are available 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger confirmation for detected variants
Sample Collection
No fasting is required. The patient is advised to have a genetic counseling session before the test so that the implications of a positive or negative result are clearly understood.
Method: Venipuncture or finger-stick blood spot on FTA card
Laboratory Analysis
A trained phlebotomist will collect the blood sample aseptically. If using an FTA card, a few drops of blood will be spotted on the card and allowed to dry.
Report Delivery
The sample is securely transported to the laboratory at ambient temperature. No special precautions are needed for the patient.
Timeline: Results are available 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic mutations in the GARS1 gene, thereby confirming the clinical diagnosis of distal hereditary motor neuronopathy type 5. The test aids in early intervention, genetic counseling, and recurrence risk assessment in affected families.
How to Prepare
- Ensure the test requisition form and patient details are correctly filled.
- For whole blood, collect 3-5 ml in an EDTA (purple top) vacutainer and mix gently.
- For FTA card, apply one drop of blood from a finger-prick onto the printed circle and air dry.
- Label the sample with patient name, date of birth, and collection date without occlusion.
- Transport samples at room temperature within 24 hours, preferably same-day preferred.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic confirmation in patients with distal muscle weakness and suspected hereditary motor neuropathy enables accurate prognosis counseling, family screening, and appropriate physiotherapy planning. NGS-based analysis of GARS1 provides a reliable molecular diagnosis for dHMN5."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Incorrectly labelled sample
- Insufficient sample volume or degraded DNA
- Sample stored at extreme temperature conditions
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Confirms a molecular diagnosis of GARS1-related neuronopathy. Family predictive testing and management planning are recommended.
No pathogenic variant detected
Reduces the possibility of GARS1-related dHMN5, but does not exclude other hereditary or acquired neuropathies. Discuss the need for broader gene panel testing with your neurologist.
Variant of uncertain significance (VUS) identified
Indicates a DNA change whose clinical impact is not yet established. Additional family studies and further functional analysis may be advised.
If the test identifies a pathogenic variant, please consult a neurologist or medical geneticist for symptom management, surveillance, and family counselling. If a VUS is reported, periodic review of the variant classification is important.
Limitations
- ⚠This test specifically analyses the GARS1 gene and does not evaluate other genes responsible for hereditary motor neuropathies.
- ⚠Large structural rearrangements, deep intronic mutations and copy number variations may not be reliably detected using standard NGS methodology.
- ⚠Variant interpretation may be inconclusive if a variant of uncertain significance (VUS) is identified.
- ⚠Negative result does not exclude the possibility of a genetic cause due to undiscovered variants or non-genetic etiologies.
Risks & Considerations
- ●Minimal risk of bruising, bleeding or infection at the blood collection site
- ●Possible temporary fainting during venipuncture
- ●Psychological stress while waiting for the result
Interfering Factors
- ●Recent allogeneic blood transfusion may contaminate DNA and affect interpretation
- ●Very low DNA quantity or poor DNA quality may cause amplification failure
- ●Presence of hematological malignancies may interfere with constitutional genetic testing
- ●Untreated severe hemolysis or sample clumping
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Frequently Asked Questions
What is the GARS1 gene NGS genetic test?
What symptoms can prompt a doctor to order this test?
What is the molecular association of GARS1 with distal hereditary motor neuropathy type 5?
How is the sample collected?
Does this test require fasting?
What is the cost of the GARS1 gene NGS genetic test at DNA Labs India?
Will I receive raw DNA sequence data with my report?
How long does it take to get the GARS1 genetic test report?
Can this genetic test detect all types of GARS1 mutations?
Is genetic counseling included in this test?
What does an inconclusive or VUS result mean?
Is the GARS1 genetic test covered by medical insurance in India?
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