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JAGN1 Gene Neutropenia, severe congenital type 6, autosomal recessive NGS Genetic Test

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JAGN1 Gene Neutropenia, severe congenital type 6, autosomal recessive NGS Genetic Test

Also known as: Severe Congenital Neutropenia Type 6, Autosomal Recessive Neutropenia

JAGN1 Gene Neutropenia, severe congenital type 6, autosomal recessive 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose JAGN1 gene mutations causing severe congenital neutropenia type 6 through NGS genetic testing, enabling accurate management and genetic counseling.

Test Code
5075
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

Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with JAGN1 Gene Neutropenia.

Method: Blood or Saliva Collection

Step 2

Laboratory Analysis

Blood sample collection by trained phlebotomist using standard procedures.

Step 3

Report Delivery

Sample labeled and sent to laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended to discuss implications and family history.
2
During the Test:Sample collection and processing in NGS laboratory.
3
After the Test:Report generation, interpretation, and post-test counseling.

About This Test

Who Should Get This Test

To diagnose JAGN1 gene mutations causing severe congenital neutropenia type 6 through NGS genetic testing, enabling accurate management and genetic counseling.

How to Prepare

  • Provide clinical history and family pedigree
  • Ensure proper identification
  • Follow sample handling guidelines

Doctor's Notes

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

"Early genetic testing for JAGN1 mutations can guide management and family planning 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 or Saliva Collection

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: Stable for years if stored at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the JAGN1 gene, aiding in diagnosis of severe congenital neutropenia type 6.
Positive: Pathogenic variant detected, confirming diagnosis and guiding treatment
Negative: No variant detected, but clinical correlation and further testing may be needed
Variant of uncertain significance: Requires additional evaluation and genetic counseling
⚠️ When to Consult a Doctor:

If symptoms such as recurrent infections persist, or for genetic counseling and family planning after test results.

Limitations

  • Test only detects mutations in JAGN1 gene
  • May not detect all genetic variations or structural changes

Risks & Considerations

  • Minimal risk from blood draw (bruising, infection)
  • Potential psychological impact of genetic results

Interfering Factors

  • Sample contamination
  • Degraded DNA

Frequently Asked Questions

What is JAGN1 Gene Neutropenia?
JAGN1 Gene Neutropenia is a rare autosomal recessive genetic disorder caused by mutations in the JAGN1 gene, leading to reduced neutrophil counts and increased infection risk.
What are the common symptoms?
Symptoms include recurrent infections like pneumonia, skin infections, oral thrush, fever, fatigue, and slow wound healing.
How is it diagnosed?
Diagnosis is through Next Generation Sequencing (NGS) genetic testing to detect mutations in the JAGN1 gene.
What is the cost of the test in India?
The NGS Genetic Test for JAGN1 Gene Neutropenia costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available across India for online bookings.
How long does it take to get results?
Reports are typically delivered within 3 to 4 weeks.
What treatment options are available?
Treatment includes antibiotics for infection prevention and growth factors to stimulate neutrophil production, but there is no cure.
Can this condition be cured?
No, JAGN1 Gene Neutropenia has no cure, but symptoms can be managed with medical care.
Is genetic counseling provided?
Yes, genetic counseling is included to discuss results, implications, and family planning.
What files are included with the report?
The report includes clinical test report, raw data, FASTQ files, and VCF files for transparency.
Is the test covered by insurance?
Coverage depends on the insurance policy; it is not typically covered under government schemes like PMJAY or CGHS.
How can I book the test?
You can book online through DNA Labs India's website or contact their helpline for assistance.
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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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.

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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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