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AARS2 Gene Leukoencephalopathy, progressive, with ovarian failure NGS Genetic Test

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AARS2 Gene Leukoencephalopathy, progressive, with ovarian failure NGS Genetic Test

Short Name: AARS2 Leukodystrophy NGS

Also known as: AARS2-related leukoencephalopathy, Leukoencephalopathy with ovarian failure, AARS2 gene sequencing test

AARS2 Gene Leukoencephalopathy, progressive, with ovarian failure NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Targeted gene sequencing on Blood - EDTA samples. Results in Reports are provided in 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestChildren, Adolescents, Adults🏠 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 pathogenic variants in the AARS2 gene in symptomatic patients using next-generation sequencing, confirm the molecular diagnosis of AARS2-related leukoencephalopathy, and enable genetic counseling and reproductive planning.

Test Code
4204
Price
₹20,000
Sample Type
Blood - EDTA
Result Time
Reports are provided in 3 to 4 weeks from the date of sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Targeted gene sequencing
Step 1

Sample Collection

No fasting is required. A pre-test genetic counseling session is recommended to review clinical history and family pedigree.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood is collected from a vein in the arm using sterile precautions.

Step 3

Report Delivery

You may leave immediately after the sample is collected. Normal activities can be resumed.

Timeline: Reports are provided in 3 to 4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:The patient and family should have a genetic counseling session. A family pedigree may be drawn. No fasting is necessary.
2
During the Test:A 2 mL blood sample is collected by venipuncture.
3
After the Test:Apply pressure to the collection site for a few minutes. No rest is required.

About This Test

Who Should Get This Test

To identify pathogenic variants in the AARS2 gene in symptomatic patients using next-generation sequencing, confirm the molecular diagnosis of AARS2-related leukoencephalopathy, and enable genetic counseling and reproductive planning.

How to Prepare

  • Please carry a valid doctor's prescription and patient identification.
  • EDTA tube is the preferred sample container.
  • Ensure the tube is labeled with patient name, date of birth, and collection time.
  • Transport the sample to the laboratory at the earliest opportunity.

Doctor's Notes

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

"In young women with premature ovarian failure and neurological symptoms, a targeted AARS2 gene NGS test can help reach a molecular diagnosis earlier and guide both neurological and reproductive counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood - EDTA
Sample Volume2 mL
ContainerEDTA vacutainer
Collection MethodVenipuncture

Sample Stability

Room temperature: 24-48 hours
Refrigerated 2-8°C: up to 7 days
Frozen: not routinely required for whole blood
Sample Rejection Criteria:
  • Clotted or haemolysed sample
  • Incorrect anticoagulant tube
  • Unlabelled or mismatched sample
  • Sample received after prolonged delivery time beyond recommended stability

Understanding Your Results

A clinical geneticist and genetic pathologist review the sequencing data. Detected variants are classified using ACMG/AMP guidelines.
📊

Biallelic pathogenic/likely pathogenic variant in AARS2

Supports a molecular diagnosis of AARS2-related leukoencephalopathy.

📊

Single pathogenic variant in AARS2

May represent carrier status; further testing may be needed to exclude a missed second variant.

📊

Variant of uncertain significance

Insufficient evidence for diagnosis; family segregation studies may help clarify.

📊

No pathogenic variant detected

Reduces likelihood of AARS2 disease; other genetic or acquired causes should be considered.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if brain MRI shows unexplained leukoencephalopathy, if neurological regression is present, or if a young woman has ovarian failure coexisting with neurological symptoms.

Limitations

  • ⚠NGS may not detect large exon-level deletions or duplications unless CNV analysis is included.
  • ⚠Deep intronic variants and regulatory region variants may not be evaluated.
  • ⚠This test is limited to the AARS2 gene and does not exclude variants in other leukoencephalopathy genes.
  • ⚠A variant of uncertain significance may require additional family segregation studies.

Risks & Considerations

  • ●Mild pain or bruising at the puncture site
  • ●Rare chance of bleeding in patients with bleeding disorders
  • ●Very rare infection at the venipuncture site

Interfering Factors

  • ●Poor DNA quality due to improper sample transport
  • ●Sample contamination during collection
  • ●Clotted or haemolysed blood sample
  • ●Recent blood transfusion affecting nucleated cell DNA

Compare With Similar Tests

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Frequently Asked Questions

What is AARS2 gene leukoencephalopathy?
AARS2 gene leukoencephalopathy is a rare inherited disease that causes progressive damage to the white matter of the brain. It is caused by mutations in the AARS2 gene and may be associated with premature ovarian failure in females.
What are the early symptoms of AARS2 gene leukoencephalopathy?
Early symptoms can include progressive weakness and stiffness of the legs, walking difficulty, balance problems, seizures, speech and language difficulty, vision loss, developmental delay, and cognitive decline.
How is the condition diagnosed?
The condition is confirmed by genetic testing. MRI findings of leukoencephalopathy and clinical features suggestive of ovarian or neurological dysfunction support the diagnosis.
What does the NGS genetic test detect?
The NGS test analyses the coding regions and splice sites of the AARS2 gene to look for disease-causing variants, including single nucleotide changes and small insertions or deletions.
What type of sample is needed for this test?
A peripheral blood sample is needed. The sample is collected in an EDTA tube.
Is fasting required for the AARS2 NGS test?
No, fasting is not required for this genetic test.
How long does the AARS2 gene NGS test take?
The test result is generally available in 3 to 4 weeks.
What is the cost of the AARS2 gene NGS test at DNA Labs India?
The test costs INR 20,000 at DNA Labs India. Free home sample collection is available for online bookings.
Who should consider this genetic test?
It is advised for individuals with unexplained leukoencephalopathy on MRI, progressive neurological symptoms, or young-onset ovarian failure with neurological signs. A neurologist or geneticist should order the test.
Why is genetic counselling needed before the test?
Genetic counselling helps individuals understand the implications of the test, interpret results, and assess familial recurrence risk. A pedigree chart is often drawn as part of the pre-test workup.
Can a negative AARS2 result rule out the disease?
A negative result reduces the chance of AARS2-related leukoencephalopathy but does not completely exclude other genetic or acquired causes. Further testing may be needed if clinical suspicion remains.
Is home sample collection available for this test?
Yes, DNA Labs India provides free home sample collection for online bookings in many cities, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and numerous other towns across India.
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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