VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive NGS Genetic Test
Short Name: VPS45 Gene Neutropenia Test
Also known as: Severe Congenital Neutropenia Type 5, Autosomal Recessive Neutropenia
VPS45 Gene Neutropenia, severe congenital type 5, 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of the VPS45 Gene Neutropenia Test is to confirm the genetic diagnosis of severe congenital neutropenia type 5 by detecting mutations in the VPS45 gene. This helps in accurate disease characterization, guiding appropriate medical management, and offering genetic counseling for affected families.
- Test Code
- 5609
- 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
Sample Collection
No specific preparation is required. Provide clinical history and undergo genetic counseling to draw a pedigree chart.
Method: Blood draw
Laboratory Analysis
A small blood sample is drawn from a vein in the arm. The procedure is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the VPS45 Gene Neutropenia Test is to confirm the genetic diagnosis of severe congenital neutropenia type 5 by detecting mutations in the VPS45 gene. This helps in accurate disease characterization, guiding appropriate medical management, and offering genetic counseling for affected families.
How to Prepare
- Ensure proper identification of the patient
- Use sterile equipment for blood collection
- Label the sample correctly with patient details
- Transport the sample to the lab at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for VPS45 mutations is crucial for guiding treatment strategies and informed family planning in cases of severe congenital neutropenia."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Positive for pathogenic variants
Confirms diagnosis of VPS45-related severe congenital neutropenia. Genetic counseling and treatment planning are recommended.
Negative for pathogenic variants
No mutations detected in the VPS45 gene. Consider other genetic or non-genetic causes of neutropenia.
Variant of uncertain significance (VUS)
A genetic change with unknown clinical impact. Further family studies or functional analysis may be needed.
Consult a doctor if you have symptoms of recurrent infections, low neutrophil counts, or a family history of neutropenia. After testing, seek genetic counseling to understand results and management options.
Limitations
- ⚠May not detect all mutation types, such as large deletions or deep intronic variants
- ⚠Results require clinical correlation and genetic counseling
- ⚠Does not rule out other genetic causes of neutropenia
Risks & Considerations
- ●Minimal risks from blood draw, such as slight pain, bruising, or infection at the puncture site
- ●Psychological impact of genetic results; counseling is provided
Interfering Factors
- ●Sample contamination or degradation
- ●Recent blood transfusions may affect DNA analysis
- ●Improper sample storage or handling
Frequently Asked Questions
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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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