Skip to main content
DNA Labs India

IRX5 Gene Hamamy syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

IRX5 Gene Hamamy syndrome NGS Genetic Test

Also known as: Hamamy Syndrome Genetic Test, IRX5 Gene Test

IRX5 Gene Hamamy syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood, Extracted DNA, FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Genetic TestPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Hamamy Syndrome by detecting pathogenic mutations in the IRX5 gene using NGS technology.

Test Code
5750
Price
₹20,000
Sample Type
Blood, Extracted DNA, FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS
Step 1

Sample Collection

Genetic counseling and clinical history review required.

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or FTA card.

Step 3

Report Delivery

Sample sent to laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample collection.
3
After the Test:Wait for 3-4 weeks for results and consult healthcare professional for interpretation.

About This Test

Who Should Get This Test

To diagnose Hamamy Syndrome by detecting pathogenic mutations in the IRX5 gene using NGS technology.

How to Prepare

  • Provide detailed clinical history
  • Genetic counseling session recommended prior to testing
  • Collect blood sample or use FTA card as specified

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, FTA Card

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the IRX5 gene.
📊

Pathogenic variant detected

Confirms diagnosis of Hamamy Syndrome; genetic counseling recommended for management and family planning.

📊

No pathogenic variant detected

Hamamy Syndrome unlikely based on genetic testing; clinical correlation and further evaluation may be advised.

⚠️ When to Consult a Doctor:

If symptoms of Hamamy Syndrome are present, family history suggests genetic disorder, or for genetic counseling regarding test results.

Risks & Considerations

  • Minimal risk from blood draw (e.g., bruising, infection)
  • Genetic counseling recommended for psychological support and result interpretation

Frequently Asked Questions

What is Hamamy Syndrome?
Hamamy Syndrome is a rare genetic disorder caused by mutations in the IRX5 gene, characterized by intellectual disability, abnormal facial features, skeletal abnormalities, heart defects, and urinary or genital anomalies.
What causes Hamamy Syndrome?
Hamamy Syndrome is caused by pathogenic mutations in the IRX5 gene, which is involved in development of the heart and other organs.
What are the symptoms of Hamamy Syndrome?
Symptoms include intellectual disability, small head size, widely spaced eyes, small jaw, short stature, spinal curvature, joint problems, heart defects, and urinary or genital abnormalities.
How is Hamamy Syndrome diagnosed?
Diagnosis is confirmed through Next-Generation Sequencing (NGS) genetic testing to identify mutations in the IRX5 gene.
What is the IRX5 Gene?
The IRX5 gene is a protein-coding gene critical for development; mutations in this gene are linked to Hamamy Syndrome and other genetic disorders.
What is the cost of the IRX5 Gene Hamamy Syndrome NGS Genetic Test in India?
The cost is approximately INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
How accurate is the NGS Genetic Test for Hamamy Syndrome?
NGS genetic testing is highly accurate and can detect even small genetic mutations in the IRX5 gene.
Who should consider getting tested for Hamamy Syndrome?
Individuals with symptoms of Hamamy Syndrome, family history of the disorder, or clinical suspicion of IRX5 gene mutation should consider testing.
Is genetic counseling required before the test?
Genetic counseling is recommended to understand the test, implications, and for drawing a family pedigree chart.
What should I do if the test result is positive?
If positive, consult a genetic counselor or healthcare professional for management, support, and family planning advice.
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

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.