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GATA2 Gene Emberger syndrome NGS Genetic Test

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GATA2 Gene Emberger syndrome NGS Genetic Test

GATA2 Gene Emberger syndrome 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.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the GATA2 gene associated with Emberger Syndrome for accurate diagnosis and management.

Test Code
4924
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Emberger Syndrome or GATA2 gene mutations.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before sample collection.
2
During the Test:Sample collection involves a blood draw or use of an FTA card.
3
After the Test:Results are delivered online in 3 to 4 weeks. Follow-up with a healthcare provider is advised.

About This Test

Who Should Get This Test

To identify mutations in the GATA2 gene associated with Emberger Syndrome for accurate diagnosis and management.

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of mutations in the GATA2 gene. Positive results confirm a diagnosis of Emberger Syndrome, while negative results may require further clinical evaluation.
Positive result: Mutation detected in GATA2 gene, consistent with Emberger Syndrome.
Negative result: No mutation detected, but clinical correlation is advised.
Variant of uncertain significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like recurrent infections, unexplained swelling, or have a family history of Emberger Syndrome or related disorders.

Frequently Asked Questions

What is Emberger Syndrome?
Emberger Syndrome is a rare genetic condition caused by mutations in the GATA2 gene, affecting the immune system and leading to symptoms like recurrent infections and lymphedema.
What causes Emberger Syndrome?
It is caused by mutations in the GATA2 gene, which is crucial for blood cell and immune system development.
What are the symptoms of Emberger Syndrome?
Common symptoms include recurrent infections, low white blood cell and platelet counts, lymphedema, pulmonary alveolar proteinosis, and myelodysplastic syndrome.
How is Emberger Syndrome diagnosed?
Diagnosis is primarily through genetic testing, such as NGS Genetic Testing, to identify mutations in the GATA2 gene.
What is NGS Genetic Testing?
Next Generation Sequencing (NGS) is an advanced genetic testing method that analyzes the entire genetic code to detect mutations with high accuracy.
Why is GATA2 gene testing important?
Testing for GATA2 gene mutations helps in early diagnosis of Emberger Syndrome, enabling timely treatment and management of symptoms.
What is the cost of the test?
The cost of the GATA2 Gene Emberger Syndrome NGS Genetic Test at DNA Labs India is INR 20,000.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What should I do before the test?
A genetic counseling session is recommended to discuss clinical history and draw a family pedigree chart.
Who should consider this test?
Individuals with symptoms of Emberger Syndrome, a family history of the condition, or related immunodeficiency disorders should consider this test.
Is genetic counseling required?
Yes, genetic counseling is advised before testing to understand the implications and prepare a family pedigree chart.
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

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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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