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ARX Gene Lissencephaly, X-linked type 2 NGS Genetic Test

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ARX Gene Lissencephaly, X-linked type 2 NGS Genetic Test

Short Name: ARX Lissencephaly NGS Test

Also known as: X-linked lissencephaly type 2, ARX-related disorders

ARX Gene Lissencephaly, X-linked type 2 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 to 4 weeks. Free home collection in 300+ cities across India.

PediatricsMalePediatric🏠 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 mutations in the ARX gene for diagnosis of X-linked lissencephaly type 2, enabling early intervention and management.

Test Code
2749
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Blood Collection

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site and keep the area clean.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation to assess indications.
2
During the Test:Sample collection and NGS analysis in the laboratory.
3
After the Test:Report generation, delivery, and follow-up consultation.

About This Test

Who Should Get This Test

To identify mutations in the ARX gene for diagnosis of X-linked lissencephaly type 2, enabling early intervention and management.

How to Prepare

  • Bring medical records and identification
  • Ensure proper sample labeling
  • Follow fasting instructions if specified

Doctor's Notes

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

"Early genetic testing for ARX mutations can guide management and family counseling, especially in males with developmental delays or seizures."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Collection

Sample Stability

Blood: 24 hours at room temperature
DNA: Stable for years when stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled sample

Understanding Your Results

Results should be interpreted by a qualified geneticist or healthcare provider.
📊

Positive for ARX mutation

Confirms diagnosis of X-linked lissencephaly type 2, guiding treatment and counseling.

📊

Negative for ARX mutation

No pathogenic variants detected, but clinical correlation and further testing may be needed.

⚠️ When to Consult a Doctor:

If symptoms such as seizures or developmental delays persist, or for genetic counseling after test results.

Limitations

  • ⚠May not detect all ARX mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of results
  • ●No significant physical risks

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling

Compare With Similar Tests

TestARX Gene Lissencephaly, X-linked type 2 NGS Genetic TestMRI BrainKaryotyping
ComparisonARX Gene Lissencephaly, X-linked type 2 NGS Genetic TestImaging for brain structure vs genetic testing for mutation detection.Chromosomal analysis vs targeted gene sequencing.

Frequently Asked Questions

What is ARX Gene Lissencephaly, X-linked type 2?
It is a rare genetic disorder caused by mutations in the ARX gene, leading to abnormal brain development and neurological symptoms, primarily in males.
What are the common symptoms of this disorder?
Symptoms include developmental delays, seizures, intellectual disability, muscle weakness, poor muscle tone, speech difficulties, and abnormal eye movements.
How is the disorder diagnosed?
Diagnosis is through genetic testing, such as NGS, to identify mutations in the ARX gene, along with clinical evaluation and medical history.
What is the cost of the NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
What is the treatment for this disorder?
There is no cure, but treatment includes medications for seizures, physical therapy, speech therapy, and ongoing support to manage symptoms.
Is the test covered by insurance?
Coverage depends on the insurance policy; it is not typically covered under government schemes like PMJAY or CGHS without verification.
Who should consider this test?
Individuals with symptoms like developmental delays or seizures, especially males, and families with a history of the disorder.
What are the risks of the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have psychological implications.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting ARX gene mutations, but results should be interpreted by a geneticist for clinical correlation.
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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