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ELANE Gene Neutropenia, severe congenital type 1 NGS Genetic Test

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ELANE Gene Neutropenia, severe congenital type 1 NGS Genetic Test

Also known as: Severe congenital neutropenia type 1, ELANE Gene Neutropenia

ELANE Gene Neutropenia, severe congenital type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) on Blood, 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the ELANE Gene Neutropenia NGS Genetic Test is to identify mutations in the ELANE gene that cause severe congenital neutropenia type 1. This test aids in confirming diagnosis, assessing risk, and guiding personalized treatment plans for affected individuals.

Test Code
5608
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS (Next Generation Sequencing)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with ELANE Gene Neutropenia.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS (Next Generation Sequencing) 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:Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with ELANE Gene Neutropenia.

About This Test

Who Should Get This Test

The purpose of the ELANE Gene Neutropenia NGS Genetic Test is to identify mutations in the ELANE gene that cause severe congenital neutropenia type 1. This test aids in confirming diagnosis, assessing risk, and guiding personalized treatment plans for affected individuals.

How to Prepare

  • Blood sample: Venipuncture
  • Extracted DNA: Provided by lab
  • FTA Card: One drop of blood

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results of the ELANE Gene Neutropenia NGS Genetic Test indicate the presence or absence of mutations in the ELANE gene.
📊

Pathogenic variant detected

Confirms diagnosis of ELANE Gene Neutropenia; genetic counseling recommended.

📊

No pathogenic variant detected

ELANE gene mutations not found; consider other causes of neutropenia.

⚠️ When to Consult a Doctor:

If you or your child experience recurrent infections, mouth ulcers, gum inflammation, skin infections, fever, weakness, fatigue, or delayed growth, consult a healthcare provider immediately.

Risks & Considerations

  • Minimal physical risk from blood draw
  • Potential psychological impact of genetic results

Frequently Asked Questions

What is ELANE Gene Neutropenia?
ELANE Gene Neutropenia is a rare genetic disorder caused by mutations in the ELANE gene, leading to low neutrophil counts and increased infection risk.
What are the common symptoms?
Symptoms include recurrent infections, mouth ulcers, gum inflammation, skin infections, fever, weakness, fatigue, and delayed growth in children.
How is it diagnosed?
Diagnosis involves blood tests to check neutrophil counts and genetic testing to confirm ELANE gene mutations.
What is the NGS Genetic Test?
The NGS Genetic Test uses Next Generation Sequencing to accurately detect mutations in the ELANE gene for diagnosis.
What is the cost of the test at DNA Labs India?
The test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What preparation is needed before the test?
A clinical history and genetic counseling session are recommended before the test.
What are the treatment options?
Treatment may include antibiotics, growth factors, or bone marrow transplant in severe cases.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider.
Can children undergo this test?
Yes, the test can be performed on individuals of all ages, including children.
How accurate is the NGS Genetic Test?
NGS technology is highly accurate for detecting genetic mutations, but results should be interpreted by a genetic specialist.
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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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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