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ARX Gene Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 NGS Genetic Test

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ARX Gene Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 NGS Genetic Test

Short Name: ARX NGS Genetic Test

Also known as: XLAG, Lissencephaly X-linked 2, Hydranencephaly with abnormal genitalia

ARX Gene Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports will be delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestMale/FemaleAll 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 detect pathogenic variants in the ARX gene associated with Hydranencephaly with Abnormal Genitalia/Lissencephaly X-linked 2. This aids in confirming diagnosis, carrier detection, and risk assessment for family members.

Test Code
4139
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be delivered within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Kindly complete the genetic counseling session before sample collection. Provide the clinical history and family pedigree.

Method: Peripheral blood draw or FTA card spot

Step 2

Laboratory Analysis

For blood collection, a tourniquet will be applied and blood drawn from the antecubital vein. For FTA card, a finger prick will be performed and the blood spot will be collected.

Step 3

Report Delivery

No restrictions. Resume routine activities immediately.

Timeline: Reports will be delivered within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No preparation required. Ensure to include clinical history and pedigree chart.
2
During the Test:Sample collection is quick; slight pain may occur during blood draw.
3
After the Test:You can return to normal activities immediately.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the ARX gene associated with Hydranencephaly with Abnormal Genitalia/Lissencephaly X-linked 2. This aids in confirming diagnosis, carrier detection, and risk assessment for family members.

How to Prepare

  • No fasting required
  • No special preparation
  • Bring prescription and clinical notes
  • FTA card should be air-dried after sample collection

Doctor's Notes

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

"Genetic testing for ARX-related disorders is important for early diagnosis, counseling, and recurrence risk assessment."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume1-2 ml blood or 1 FTA card spot
ContainerEDTA tube or FTA card
Collection MethodPeripheral blood draw or FTA card spot

Sample Stability

Blood (EDTA): 24-48 hours at 2-8°C
Extracted DNA: 7 days at -20°C
FTA Card: 6 months at room temperature
Sample Rejection Criteria:
  • Clotted blood
  • Hemolyzed sample
  • Improperly labeled sample
  • Incomplete requisition form

Understanding Your Results

Interpretation of NGS results should be performed by a certified clinical geneticist.
📊

Pathogenic variant detected

Confirms diagnosis of ARX-related disorder; supports clinical management.

📊

No pathogenic variant detected

Suggests alternative genetic cause or condition; genetic counseling recommended.

📊

Variant of uncertain significance

Cannot determine clinical significance; additional family studies may be needed.

⚠️ When to Consult a Doctor:

If you or your child exhibit neurological symptoms such as seizures, developmental delay, microcephaly, or abnormal genitalia, consult a neurologist or geneticist for genetic evaluation.

Risks & Considerations

  • ●Minimal risk of bleeding or bruising at needlestick site
  • ●Mild dizziness during blood collection

Interfering Factors

  • ●Maternal blood contamination
  • ●Poor quality or degraded DNA
  • ●Rare deep intronic variants

Compare With Similar Tests

TestARX Gene Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 NGS Genetic TestSanger SequencingChromosomal Microarray AnalysisWhole Exome Sequencing
ComparisonARX Gene Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 NGS Genetic Test

Frequently Asked Questions

What is the ARX gene?
The ARX gene provides instructions for making a protein that plays a critical role in brain development and the formation of certain genital structures. Mutations in this gene cause X-linked disorders like lissencephaly and hydranencephaly with abnormal genitalia.
What is X-linked lissencephaly with abnormal genitalia (XLAG)?
XLAG is a severe brain malformation syndrome caused by ARX gene mutations. It is characterized by lissencephaly, absence or underdevelopment of the corpus callosum, infantile seizures, and abnormal genitalia, predominantly in males.
Who should get this test?
It is recommended for individuals with clinical features suggestive of ARX-related disorders, including severe developmental delay, microcephaly, seizures, ambiguous genitalia, or a family history of X-linked neurological conditions.
How is the NGS test performed?
The test uses next-generation sequencing to analyze the ARX gene from a small blood sample, extracted DNA, or FTA card blood spot. The DNA is amplified and sequenced to identify mutations.
What does a positive result mean?
A pathogenic variant in the ARX gene confirms the diagnosis of an ARX-related disorder. Genetic counseling is strongly advised to discuss management and recurrence risks.
What does a negative result mean?
A negative result indicates no pathogenic variant was detected in ARX. However, the diagnosis may still be possible if another gene is involved; further testing may be recommended.
Is fasting required?
No, fasting is not required for this genetic test.
How long do results take?
Reports are available within 3 to 4 weeks from the receipt of the sample.
Can home sample collection be arranged?
Yes, DNA Labs India offers free home sample collection for online bookings across major cities and towns in India.
Can this test be used for prenatal diagnosis?
Yes, genetic testing of the ARX gene can be performed on prenatal samples such as amniotic fluid or chorionic villi after proper genetic counseling and medical assessment.
Are there any risks involved?
The test is safe. Blood collection may involve slight pain or bruising at the needle site.
How should I book the test?
You can book online through the DNA Labs India website or call our helpline. A free home sample collection will be scheduled based on your location.
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

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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.

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