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RNASET2 Gene Leukoencephalopathy, cystic without megalencephaly NGS Genetic Test

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RNASET2 Gene Leukoencephalopathy, cystic without megalencephaly NGS Genetic Test

Short Name: RNASET2 Genetic Test

Also known as: RNASET2-related leukoencephalopathy, Cystic leukoencephalopathy without megalencephaly

RNASET2 Gene Leukoencephalopathy, cystic without megalencephaly NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS)🏠 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 diagnose RNASET2 gene mutations causing leukoencephalopathy, cystic without megalencephaly, enabling accurate clinical management and genetic counseling.

Test Code
1666
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Blood draw or FTA card collection

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist or a drop of blood collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding and keep it clean.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide medical history.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Wait for report delivery in 3-4 weeks and discuss results with a doctor.

About This Test

Who Should Get This Test

To diagnose RNASET2 gene mutations causing leukoencephalopathy, cystic without megalencephaly, enabling accurate clinical management and genetic counseling.

How to Prepare

  • No fasting required unless specified
  • Bring valid ID and doctor's prescription
  • Ensure sample is properly labeled

Doctor's Notes

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

"Genetic testing for RNASET2 mutations is crucial for early diagnosis and management of leukoencephalopathy, especially in families with a history of neurological symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
Collection MethodBlood draw or FTA card collection

Sample Stability

Blood sample stable for 48 hours at 2-8°C
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic RNASET2 gene mutations associated with leukoencephalopathy.
📊

Pathogenic variant detected

Confirms diagnosis of RNASET2 gene leukoencephalopathy; genetic counseling recommended

📊

No pathogenic variant detected

RNASET2 mutations not found; consider other causes and clinical correlation

📊

Variant of uncertain significance

Further testing or family studies may be needed for interpretation

⚠️ When to Consult a Doctor:

If symptoms such as movement difficulties, seizures, or cognitive impairment persist or worsen, consult a neurologist or genetic specialist immediately.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Very low risk of infection

Interfering Factors

  • ●Poor DNA quality
  • ●Contaminated sample
  • ●Incorrect sample storage

Compare With Similar Tests

TestRNASET2 Gene Leukoencephalopathy, cystic without megalencephaly NGS Genetic TestMRI BrainEEGMetabolic ScreeningWhole Exome Sequencing
ComparisonRNASET2 Gene Leukoencephalopathy, cystic without megalencephaly NGS Genetic TestImaging to detect white matter abnormalities but cannot confirm genetic causeAssesses seizure activity but not specific for RNASET2 mutationsRules out metabolic disorders but not directly diagnostic for genetic mutationsBroader genetic test but more expensive and time-consuming

Frequently Asked Questions

What is RNASET2 gene leukoencephalopathy?
It is a rare genetic disorder affecting the brain's white matter, caused by mutations in the RNASET2 gene, leading to symptoms like movement difficulties and seizures.
What are the common symptoms?
Symptoms include progressive movement and coordination issues, seizures, cognitive impairment, abnormal muscle tone, peripheral neuropathy, and vision loss.
How is this disorder diagnosed?
Diagnosis involves clinical evaluation, MRI to detect white matter abnormalities, and genetic testing to confirm RNASET2 mutations.
What does the NGS genetic test involve?
The test uses Next Generation Sequencing to analyze the RNASET2 gene for pathogenic variants from a blood or DNA sample.
What is the cost of the test at DNA Labs India?
The test costs INR 20000, with free home sample collection across India.
Is fasting required for this test?
No, fasting is not required unless specifically instructed by your healthcare provider.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is genetic counseling provided?
Yes, a genetic counseling session is included to draw a pedigree chart and discuss family history.
What if the test result is positive?
A positive result confirms the diagnosis; consult a neurologist or genetic specialist for management and family planning advice.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw, but no significant risks are involved.
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

Your Data Privacy

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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