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DNA Labs India

AARS1 Gene CMT2N NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

AARS1 Gene CMT2N NGS Genetic Test

Short Name: AARS1 CMT2N NGS Test

Also known as: AARS1 Mutation Test, CMT2N NGS Test, Alanyl-tRNA Synthetase Gene Test

AARS1 Gene CMT2N NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation for identified variants on Blood samples. Results in Reports are typically delivered within 3 to 4 weeks of sample receipt. A hard copy and electronic version are provided.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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

To identify disease-causing variants in the AARS1 gene associated with Charcot-Marie-Tooth disease type 2N, enabling a precise molecular diagnosis and informed clinical management.

Test Code
3961
Price
₹20,000
Sample Type
Blood
Result Time
Reports are typically delivered within 3 to 4 weeks of sample receipt. A hard copy and electronic version are provided.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger Confirmation for identified variants
Step 1

Sample Collection

No specific preparation is required. Please carry any prior genetic test reports, referral notes, and a government-issued ID. Inform the phlebotomist if you have a bleeding disorder or are taking anticoagulant medication.

Method: Peripheral blood venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect approximately 2-3 ml of peripheral blood from a vein in your arm using standard aseptic technique. The procedure takes only a few minutes.

Step 3

Report Delivery

You may resume normal activities immediately. Pressure is applied to the puncture site to prevent bruising. Keep the bandage on for at least 15-20 minutes.

Timeline: Reports are typically delivered within 3 to 4 weeks of sample receipt. A hard copy and electronic version are provided.

Patient Instructions

1
Before the Test:No special preparations are required for this test. Patients attend a genetic counselling session before sample collection to review family history and understand the test process.
2
During the Test:The test involves a simple blood draw. Patients may feel a mild prick. No other special measures are necessary.
3
After the Test:After the blood draw, patients can resume normal activities. Results are usually available in 3 to 4 weeks and will be communicated by the healthcare provider.

About This Test

Who Should Get This Test

To identify disease-causing variants in the AARS1 gene associated with Charcot-Marie-Tooth disease type 2N, enabling a precise molecular diagnosis and informed clinical management.

How to Prepare

  • For home collection, ensure you are available at the scheduled time.
  • Verify the patient’s name and date of birth on the sample label before collection.
  • Do not draw blood from the same arm as recent IV lines if possible.

Doctor's Notes

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

"Genetic confirmation of CMT2N enables precise family counselling, early intervention, and better neurological symptom management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume2-3 ml
ContainerEDTA lavender top tube
Collection MethodPeripheral blood venipuncture

Sample Stability

Blood sample stable for 24-48 hours at 2-8°C
Do not freeze whole blood
Transport to the laboratory within 24 hours of collection
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrectly labelled or unlabelled sample
  • Sample received after the stability period
  • Inadequate sample volume

Understanding Your Results

This test identifies pathogenic and likely pathogenic variants in the AARS1 gene. Results should be interpreted in conjunction with clinical presentation, family history, and neurological examination findings. Genetic counselling is recommended before and after testing.
Positive: Detection of a pathogenic or likely pathogenic variant in AARS1 confirms the molecular diagnosis of CMT2N.
Negative: No pathogenic variant identified in AARS1; alternative diagnoses or other genetic causes of CMT should be considered.
Variant of Uncertain Significance (VUS): The variant may be reclassified after further familial segregation studies or functional analysis.
⚠️ When to Consult a Doctor:

Consult your neurologist or clinical geneticist for pre-test genetic counselling, to understand the implications of the results, and to discuss family screening or reproductive options.

Limitations

  • ⚠This test only analyses the AARS1 gene and does not cover other genes associated with CMT.
  • ⚠Regulatory regions, deep intronic variants, and large structural rearrangements may not be fully detected.
  • ⚠A negative result does not exclude a diagnosis of CMT2N, especially if clinical suspicion is high.
  • ⚠Variants of uncertain significance (VUS) may require additional family studies to clarify pathogenicity.

Risks & Considerations

  • ●Slight bruising or discomfort at the venipuncture site
  • ●Infection (very rare) if sterile precautions are not followed
  • ●Psychological distress upon receiving a genetic diagnosis

Interfering Factors

  • ●Inadequate DNA quality or quantity
  • ●Presence of maternal cell contamination in blood samples
  • ●Recent allogeneic blood transfusion
  • ●Rare sequence variants affecting primer binding or sequencing chemistry

Frequently Asked Questions

What is the AARS1 Gene CMT2N NGS Genetic Test?
It is a next-generation sequencing test that detects mutations in the AARS1 gene that cause Charcot-Marie-Tooth disease type 2N (CMT2N).
What is CMT2N?
CMT2N is a rare, inherited peripheral neuropathy caused by mutations in the AARS1 gene, leading to progressive muscle weakness, sensory loss, and foot deformities.
What symptoms indicate the need for this test?
Symptoms such as progressive muscle wasting in the legs, foot drop, numbness or tingling in hands and feet, high arches, and difficulty walking may prompt testing.
How does the test work?
A DNA sample is extracted from blood, and the AARS1 gene is sequenced using NGS to identify any pathogenic or likely pathogenic variants.
What is the cost of the test at DNA Labs India?
The price is INR 20,000, which includes home sample collection, genetic analysis, and interpretation of results.
How long does the test take to report?
Turnaround time is typically 3 to 4 weeks after the sample reaches the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
Do I need to fast before the test?
No, fasting is not required for this genetic test. You can eat and drink normally.
Can this test be done during pregnancy?
Yes, blood can be drawn from a pregnant woman for her own genetic testing. If fetal testing is required, additional prenatal procedures are needed, which are not included here.
What does a positive result mean?
A positive result confirms the presence of a pathogenic variant in AARS1, supporting a diagnosis of CMT2N. Genetic counselling is strongly recommended.
Does insurance cover this test?
Typically, genetic tests are not covered by routine insurance plans in India. Coverage depends on the provider and policy. We recommend checking with your insurer beforehand.
Are there any risks involved?
Risks are minimal and similar to routine blood draw, such as slight bruising or discomfort. There may be psychological implications of a genetic diagnosis.
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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For Hospitals & Clinics

Reference Laboratory Services

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.

LIMS Integration

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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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