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MARS2 Gene Spastic ataxia type 3, autosomal recessive NGS Genetic Test

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MARS2 Gene Spastic ataxia type 3, autosomal recessive NGS Genetic Test

Short Name: MARS2 NGS

Also known as: Spastic Ataxia Type 3, Autosomal Recessive Spastic Ataxia 3, MARS2-associated spastic ataxia

MARS2 Gene Spastic ataxia type 3, autosomal recessive 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 3 to 4 weeks, depending on sequencing quality and required repeat runs.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

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 mutations in the MARS2 gene that cause spastic ataxia type 3. Early diagnosis helps in disease management, genetic counselling, and family planning.

Test Code
4508
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks, depending on sequencing quality and required repeat runs.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Fasting is not necessary. A genetic counselling session is recommended prior to testing.

Method: Blood draw / FTA card spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect 1 ml of blood in an EDTA vacutainer. Alternatively, a few drops of blood can be spotted on FTA card.

Step 3

Report Delivery

Sample should be dispatched to the laboratory within 24 hours at room temperature. DNA extracted sample can be stored at 4°C.

Timeline: 3 to 4 weeks, depending on sequencing quality and required repeat runs.

Patient Instructions

1
Before the Test:A genetic counselling session to draw a pedigree chart of family members is required prior to this test.
2
During the Test:The test is performed using next-generation sequencing on a blood or saliva sample.
3
After the Test:Results will be shared in a secure online portal and via email/WhatsApp. A genetic counselor can help interpret the report.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect mutations in the MARS2 gene that cause spastic ataxia type 3. Early diagnosis helps in disease management, genetic counselling, and family planning.

How to Prepare

  • Keep the FTA card completely dry before packaging
  • Label the sample with patient name and unique ID
  • Avoid hemolyzed samples for best DNA yield

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for MARS2 gene mutations is recommended for patients presenting with early-onset spastic ataxia, especially when inheritance is autosomal recessive."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume1 ml whole blood or 2 drops blood on FTA card or 5 µg extracted DNA
ContainerEDTA vacutainer or FTA card or sterile tube
Collection MethodBlood draw / FTA card spot

Sample Stability

Blood in EDTA: 7 days at room temperature
FTA card: stable for several weeks at room temperature
Extracted DNA: 1 week at 4°C, long term at -20°C
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted sample in EDTA tube
  • Mislabeled sample
  • Insufficient sample volume

Understanding Your Results

The genetic test report will describe whether a pathogenic or likely pathogenic variant is identified in the MARS2 gene. It also includes raw data files for independent verification.
Positive for a known pathogenic variant: Confirms the diagnosis of spastic ataxia type 3
Carrier status: Indicates heterozygous mutation (at risk for affected offspring if both parents are carriers)
VUS: Further testing and family co-segregation studies needed
Negative result: A genetic cause other than MARS2 may be considered
⚠️ When to Consult a Doctor:

If you or your child experience progressive ataxia, spasticity, or speech difficulties, consult a neurologist to evaluate the need for genetic testing. Also consult a genetic counselor after receiving the test report.

Limitations

  • ⚠NGS may not detect deep intronic or large structural rearrangements
  • ⚠Variants of uncertain significance (VUS) may require further family studies or RNA analysis
  • ⚠Results should be interpreted in the context of clinical and family history

Interfering Factors

  • ●Sample degradation due to improper storage
  • ●Contamination during sample collection
  • ●Presence of maternal cell contamination in prenatal samples

Compare With Similar Tests

TestMARS2 Gene Spastic ataxia type 3, autosomal recessive NGS Genetic TestFriedreich Ataxia (FXN) Repeat Expansion TestSpinocerebellar Ataxia (SCA) CAG repeat panelWhole Exome Sequencing (WES)SACS gene NGS test
ComparisonMARS2 Gene Spastic ataxia type 3, autosomal recessive NGS Genetic Test

Frequently Asked Questions

What is the MARS2 gene spastic ataxia type 3 NGS test?
It is a next-generation sequencing test that analyzes the MARS2 gene to detect mutations causing spastic ataxia type 3.
What symptoms does spastic ataxia type 3 cause?
Symptoms include difficulty walking, unsteady gait, leg stiffness, tremors, speech difficulties, swallowing problems, loss of sensation and limb weakness.
How is spastic ataxia type 3 diagnosed?
It is diagnosed through clinical neurological examination, brain MRI, and confirmed by genetic testing for MARS2 gene mutations.
What is the cost of the NGS genetic test for spastic ataxia type 3 in India?
The cost is approximately INR 20,000 at DNA Labs India, which includes home sample collection and a clinical report.
What sample is required for this test?
The test requires blood in an EDTA tube, extracted DNA, or a few drops of blood on an FTA card.
How long does it take to receive results?
Results are typically ready within 3 to 4 weeks after the sample is received by the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across major Indian cities.
What is NGS technology?
NGS (Next Generation Sequencing) is a high-throughput method that can sequence multiple genes simultaneously, making it efficient for genetic disorder testing.
Are there any risks associated with the test?
There are no significant medical risks. The test uses a blood sample or FTA card blood spot; minimal discomfort at the needle site may occur.
What does a positive result mean?
A positive result identifies a pathogenic variant in the MARS2 gene, confirming the diagnosis of spastic ataxia type 3.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India provides raw data (FASTQ and VCF files) along with the clinical report for full transparency.
Who should consider this genetic test?
Individuals with symptoms of spastic ataxia, those with a family history of MARS2-related disorders, and couples planning pregnancy where both may be carriers should consider this test.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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