HAX1 Gene Neutropenia, severe congenital type 3 NGS Genetic Test
Short Name: HAX1 Gene Neutropenia NGS Test
Also known as: Severe Congenital Neutropenia Type 3, HAX1-related Neutropenia
HAX1 Gene Neutropenia, severe congenital type 3 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 3-4 weeks from sample receipt. 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 identify mutations in the HAX1 gene for diagnosis of severe congenital neutropenia type 3, guiding treatment and family counseling.
- Test Code
- 5607
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history review and genetic counseling recommended to draw a pedigree chart of affected family members.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card.
Report Delivery
Sample transported to lab under ambient temperature for DNA extraction and NGS analysis.
Timeline: 3-4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the HAX1 gene for diagnosis of severe congenital neutropenia type 3, guiding treatment and family counseling.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Label samples accurately
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for HAX1 mutations is crucial for early diagnosis and management of severe congenital neutropenia, especially in families with a history of recurrent infections."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improper labeling
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of HAX1 gene neutropenia; clinical correlation and management advised.
Negative for pathogenic variant
No disease-causing mutations detected; consider other causes of neutropenia.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
If experiencing symptoms of neutropenia, such as recurrent infections, or for family planning if there is a history of the condition.
Limitations
- ⚠May not detect all genetic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have variants of uncertain significance
Risks & Considerations
- ●Minimal risk from blood draw (bruising, infection)
- ●Potential psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | HAX1 Gene Neutropenia, severe congenital type 3 NGS Genetic Test | Complete Blood Count (CBC) | Bone Marrow Biopsy | Other Neutropenia Gene Panels |
|---|---|---|---|---|
| Comparison | HAX1 Gene Neutropenia, severe congenital type 3 NGS Genetic Test |
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