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DARS2 Gene Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation NGS Genetic Test

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DARS2 Gene Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation NGS Genetic Test

Short Name: DARS2-LBSL NGS Test

Also known as: DARS2-related leukoencephalopathy, LBSL, Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

DARS2 Gene Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / One drop blood on FTA Card samples. Results in 3 to 4 weeks from sample reaching the laboratory.. Free home collection in 300+ cities across India.

Genetic / NGSAll 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

The purpose of this test is to identify disease-causing variants in the DARS2 gene in individuals with clinical or radiological features of LBSL, confirm the diagnosis, and provide a genetic basis for management and family counselling.

Test Code
4203
CPT Code
NA
ICD Code
NA
Price
₹20,000
Sample Type
Blood / Extracted DNA / One drop blood on FTA Card
Result Time
3 to 4 weeks from sample reaching the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session is required with a clinical geneticist to draw a pedigree chart of family members affected with DARS2 Gene Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation. No fasting is required.

Method: Venipuncture / FTA card blood spot

Step 2

Laboratory Analysis

A blood sample is drawn by a trained phlebotomist. If using an FTA card, one drop of blood is placed on the card and allowed to dry.

Step 3

Report Delivery

You may resume normal activities immediately. The sample will be transported to the laboratory and reports will be shared in 3 to 4 weeks.

Timeline: 3 to 4 weeks from sample reaching the laboratory.

Patient Instructions

1
Before the Test:A genetic counselling session is required to draw a pedigree chart and discuss the implications of testing.
2
During the Test:Blood-sample collection is quick. If an FTA card is used, a few drops of blood are placed on the card.
3
After the Test:No restrictions. Reports will be delivered online/email/WhatsApp after 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the DARS2 gene in individuals with clinical or radiological features of LBSL, confirm the diagnosis, and provide a genetic basis for management and family counselling.

How to Prepare

  • Please carry your prescription/referral if available.
  • For FTA card, apply one drop of blood on each spot and air-dry for at least 30 minutes.
  • Label the sample tube/card with patient name and UHID.
  • Ensure EDTA blood is well mixed to prevent clotting.

Doctor's Notes

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

"NGS-based detection of DARS2 variants is essential for confirming LBSL, guiding surveillance, and enabling accurate recurrence-risk counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / One drop blood on FTA Card
Sample Volume2-3 ml whole blood or 1 FTA card spot or as per lab protocol for extracted DNA
ContainerEDTA vacutainer / FTA card / sterile DNA tube
Collection MethodVenipuncture / FTA card blood spot

Sample Stability

Whole blood (EDTA)
Extracted DNA
FTA card spot
Sample Rejection Criteria:
  • Clotted or hemolyzed blood
  • Insufficient blood volume
  • Improperly labeled sample
  • Contaminated FTA card
  • Sample exposed to extreme temperature

Understanding Your Results

The result is reported after analysing the DARS2 gene by NGS. Variants are classified using standard ACMG-AMP guidelines and interpreted in the clinical context.
Pathogenic or likely pathogenic variant detected: Confirms the molecular diagnosis of DARS2-related LBSL.
Variant of uncertain significance (VUS): Additional family studies or further functional evidence may be required.
No pathogenic variant detected: Does not exclude LBSL; other genetic or acquired causes should be considered.
Benign or likely benign variant detected: Not associated with disease.
⚠️ When to Consult a Doctor:

If you or your child has developmental delay, loss of milestones, progressive limb weakness, difficulty with balance or coordination, speech problems, seizures, vision/hearing changes, or MRI findings characteristic of LBSL, please consult a neurologist or clinical geneticist for genetic testing.

Limitations

  • ⚠NGS may not detect large gene deletions/duplications, regulatory region mutations, or repeat expansions unless specific bioinformatics analyses are added.
  • ⚠Variants of uncertain significance may require additional family segregation studies.
  • ⚠A negative result does not completely exclude DARS2-related disease; other genetic causes should be considered.
  • ⚠Targeted DARS2 testing does not assess other leukoencephalopathy genes.

Risks & Considerations

  • ●Pain or bruising at the venipuncture site
  • ●Mild bleeding
  • ●Lightheadedness or fainting during blood draw
  • ●Very small risk of infection

Interfering Factors

  • ●Recent blood transfusion
  • ●Bone marrow transplantation or stem cell transplant
  • ●Poor quality or degraded DNA sample
  • ●Clotted blood sample
  • ●Contamination during FTA card collection

Compare With Similar Tests

TestDARS2 Gene Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation NGS Genetic TestSingle Gene DARS2 NGSLeukodystrophy Gene PanelClinical Exome Sequencing
ComparisonDARS2 Gene Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation NGS Genetic Test

Frequently Asked Questions

What is DARS2 gene leukoencephalopathy?
It is a rare genetic disorder caused by mutations in the DARS2 gene, affecting the central nervous system and especially the myelin that protects nerve fibres.
What samples are accepted for DARS2 NGS genetic test?
Whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card can be used for this test.
Is fasting required before the DARS2 NGS genetic test?
No, fasting is not required for this genetic test.
What is the cost of DARS2 NGS genetic test at DNA Labs India?
The cost is INR 20,000 including free home sample collection in eligible cities.
How long will the DARS2 NGS test report take?
Reports are generally delivered within 3 to 4 weeks.
Is genetic counselling required before this test?
Yes, a genetic counselling session is needed to draw a family pedigree and discuss the medical and psychosocial implications of the test.
What does a positive DARS2 mutation result mean?
A pathogenic or likely pathogenic variant confirms a molecular diagnosis of DARS2-related leukoencephalopathy and helps guide clinical management.
What does a negative DARS2 mutation result mean?
A negative result means no pathogenic variant was detected in the tested regions of the DARS2 gene; however, it does not completely exclude the condition, and other genetic causes may be considered.
Can NGS detect all types of DARS2 mutations?
NGS detects single-nucleotide variants and small insertions/deletions. Large deletions or complex rearrangements may require additional testing such as MLPA or array CGH.
Is home sample collection available for this test?
Yes, DNA Labs India provides free home sample collection for online bookings across major cities in India.
Who should undergo this DARS2 NGS test?
Patients with symptoms or MRI findings suggestive of LBSL, and family members of a patient with a confirmed DARS2 mutation, after genetic counselling.
Is this DARS2 NGS test covered by insurance?
Generally, genetic tests are not routinely covered by insurance. It is best to check with your insurance provider before testing.
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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