VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive NGS Genetic Test
Short Name: VPS45 Neutropenia Genetic Test
Also known as: Severe Congenital Neutropenia Type 5, Autosomal Recessive Neutropenia Type 5
VPS45 Gene Neutropenia, severe congenital type 5, 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose VPS45 gene mutations causing severe congenital neutropenia type 5, enabling early intervention and management.
- Test Code
- 5071
- 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)
Sample Collection
Clinical History of Patient who is going for VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive NGS Genetic Test gene VPS45
Method: Venipuncture for blood, FTA card collection
Laboratory Analysis
Sample collection procedure as per standard protocols.
Report Delivery
Sample sent to lab for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose VPS45 gene mutations causing severe congenital neutropenia type 5, enabling early intervention and management.
How to Prepare
- Provide clinical history
- Genetic counseling recommended
- Use appropriate sample container
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of severe congenital neutropenia, especially in families with a history of immune disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Incorrect labeling
Understanding Your Results
Pathogenic variant detected
Diagnosis of VPS45 gene neutropenia confirmed
No pathogenic variant
Condition unlikely, but clinical correlation needed
If symptoms persist or if there is a family history of neutropenia.
Limitations
- ⚠May not detect all variants
- ⚠Requires genetic counseling
- ⚠Results should be correlated clinically
Risks & Considerations
- ●Minimal risk from blood draw
- ●Genetic privacy concerns
Interfering Factors
- ●Sample degradation
- ●Contamination
- ●Incorrect sample type
Frequently Asked Questions
What is the VPS45 Gene Neutropenia Test?
How much does the test cost?
What sample is required for the test?
How long does it take to get results?
Is home sample collection available?
What are the symptoms of VPS45 gene neutropenia?
How is the test performed?
Is genetic counseling necessary?
What if the test is positive?
Can the test detect other types of neutropenia?
Is the test covered by insurance?
How accurate is the NGS Genetic Test?
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Reference Laboratory Services
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