Skip to main content
DNA Labs India

ARX Gene Corpus callosum, agenesis of, with abnormal genitalia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ARX Gene Corpus callosum, agenesis of, with abnormal genitalia NGS Genetic Test

Short Name: ARX Gene Corpus Callosum Agenesis NGS Test

Also known as: ARX Gene Mutation Disorder, Agenesis of Corpus Callosum with Genital Anomalies

ARX Gene Corpus callosum, agenesis of, with abnormal genitalia 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 3 to 4 weeks. Free home collection in 300+ cities across India.

Genetic TestMale and FemalePediatric🏠 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 mutations in the ARX gene associated with corpus callosum agenesis and abnormal genitalia, facilitating early intervention and genetic counseling.

Test Code
5729
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
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required.

Method: Blood Draw or DNA Extraction

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test implications.
2
During the Test:Sample collection and processing in the lab.
3
After the Test:Results will be reviewed by a geneticist and reported.

About This Test

Who Should Get This Test

To diagnose mutations in the ARX gene associated with corpus callosum agenesis and abnormal genitalia, facilitating early intervention and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"Early diagnosis through NGS testing is crucial for managing symptoms and providing appropriate care for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ARX gene.
📊

Positive for pathogenic variant

Confirms diagnosis of ARX-related disorder. Genetic counseling recommended.

📊

Negative

No pathogenic variants detected. Clinical correlation advised.

📊

Variant of uncertain significance

Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms such as seizures, developmental delays, or genital abnormalities are present, consult a geneticist or pediatrician.

Limitations

  • ⚠May not detect all variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a diagnostic tool for all related conditions

Risks & Considerations

  • ●Bruising at puncture site
  • ●Rare infection risk

Interfering Factors

  • ●Degraded DNA
  • ●Contaminated sample
  • ●Incorrect sample type

Compare With Similar Tests

TestARX Gene Corpus callosum, agenesis of, with abnormal genitalia NGS Genetic TestChromosomal MicroarrayWhole Exome Sequencing
ComparisonARX Gene Corpus callosum, agenesis of, with abnormal genitalia NGS Genetic Test

Frequently Asked Questions

What is the ARX Gene Corpus Callosum Agenesis NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the ARX gene, which causes a rare disorder affecting brain and genital development.
What are the symptoms of ARX gene-related disorders?
Symptoms include absence of corpus callosum, abnormal genitalia, intellectual disability, seizures, muscle stiffness, and speech difficulties.
How is the test performed?
A blood sample or extracted DNA is analyzed using NGS technology to identify pathogenic variants in the ARX gene.
What is the cost of the test?
The test costs INR 20000, which includes testing, interpretation, and genetic counseling.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms the presence of a pathogenic ARX gene mutation, indicating the disorder. Genetic counseling is recommended.
Is genetic counseling included?
Yes, genetic counseling is included in the test cost to help understand results and implications.
Who should take this test?
Individuals with symptoms like abnormal genitalia, developmental delays, or a family history of X-linked disorders should consider this test.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but the test itself is non-invasive after sample collection.
How accurate is the NGS test?
NGS is highly accurate for detecting gene mutations, but it may not identify all variants, and results require professional interpretation.
Can insurance cover the cost?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS. Check with your insurer.
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.

Related Tests

Amino Acids Qualitative Two Dimensional Urine Test

₹1,439

Succinylacetone Urine Test

₹5,000

RXFP2 Gene Cryptorchidism NGS Genetic Test

₹20,000

EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test

₹20,000

MNX1 Gene Currarino syndrome NGS Genetic Test

₹20,000

FGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.