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G6PC3 Gene Neutropenia, severe congenital type 4, autosomal recessive NGS Genetic Test

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G6PC3 Gene Neutropenia, severe congenital type 4, autosomal recessive NGS Genetic Test

Short Name: G6PC3 Neutropenia NGS Test

G6PC3 Gene Neutropenia, severe congenital type 4, autosomal recessive 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.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the G6PC3 Gene Neutropenia NGS Genetic Test is to accurately diagnose severe congenital type 4 autosomal recessive neutropenia by identifying mutations in the G6PC3 gene. This helps in confirming the condition, guiding treatment decisions, and facilitating genetic counseling for families.

Test Code
5069
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 G6PC3 gene neutropenia are required before sample collection.

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:Provide clinical history and undergo genetic counseling. No fasting is required.
2
During the Test:Sample collection via blood draw or alternative methods as specified.
3
After the Test:Results are available in 3 to 4 weeks. Follow up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of the G6PC3 Gene Neutropenia NGS Genetic Test is to accurately diagnose severe congenital type 4 autosomal recessive neutropenia by identifying mutations in the G6PC3 gene. This helps in confirming the condition, guiding treatment decisions, and facilitating genetic counseling for families.

How to Prepare

  • Sample can be blood, extracted DNA, or one drop of blood on an FTA card.
  • Ensure proper labeling and handling of samples.
  • Home collection is available for convenience.

Doctor's Notes

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

"This test is crucial for diagnosing rare genetic disorders affecting the immune system, enabling early intervention and family planning."

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 from the G6PC3 Gene Neutropenia NGS Genetic Test indicate the presence or absence of mutations in the G6PC3 gene. Interpretation should be done by a qualified geneticist or healthcare provider.
📊

Positive for pathogenic variants

Confirms diagnosis of G6PC3 gene neutropenia; genetic counseling and management recommended.

📊

Negative for pathogenic variants

No mutations detected; clinical correlation advised if symptoms persist.

📊

Variants of uncertain significance (VUS)

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if experiencing symptoms such as frequent infections, recurrent fever, or low blood counts, or if there is a family history of neutropenia or genetic disorders.

Frequently Asked Questions

What is G6PC3 gene neutropenia?
It is a rare genetic disorder caused by mutations in the G6PC3 gene, leading to severe congenital neutropenia type 4, which affects the immune system by reducing neutrophil counts.
What are the common symptoms of this condition?
Symptoms include frequent infections, recurrent fever, skin abscesses, delayed wound healing, gum infections, enlarged spleen, low blood counts, developmental delay, small stature, and facial abnormalities.
How is G6PC3 gene neutropenia diagnosed?
Diagnosis involves medical history, physical examination, blood tests to measure neutrophil levels, and genetic testing using NGS to confirm mutations in the G6PC3 gene.
What is the cost of the NGS Genetic Test in India?
The cost is approximately INR 20,000, with home sample collection available at no extra charge.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across various cities in India.
How long does it take to receive the test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive test result mean?
A positive result confirms the presence of pathogenic variants in the G6PC3 gene, indicating G6PC3 gene neutropenia, and warrants genetic counseling and management.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss implications before testing.
Can this test be performed on children?
Yes, the test is suitable for all ages, including children, especially if symptoms or family history suggest the condition.
What are the treatment options for G6PC3 gene neutropenia?
Treatment focuses on managing symptoms, preventing infections, and may include medications like G-CSF; consult a healthcare provider for personalized care.
Is the test covered by insurance schemes like PMJAY or CGHS?
Coverage varies; it is advisable to check with specific schemes as this test may not be universally covered.
How accurate is the NGS Genetic Test for this condition?
NGS technology provides high accuracy for detecting mutations in the G6PC3 gene, making it a reliable diagnostic tool.
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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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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