Congenital neutropenia gene panel

Congenital Neutropenia Gene Panel

Overview

The Congenital Neutropenia Gene Panel is a comprehensive genetic test designed to identify disease-causing variants associated with inherited forms of congenital neutropenia. This test helps diagnose patients with persistently low neutrophil counts, recurrent bacterial infections, bone marrow failure syndromes, and increased susceptibility to leukemia. Early genetic diagnosis enables appropriate treatment, prognosis assessment, and family counseling.

Test Highlights

• Detects pathogenic variants associated with congenital neutropenia disorders
• Supports early and accurate genetic diagnosis
• Helps differentiate inherited from acquired neutropenia
• Assists in treatment planning, prognosis, and genetic counseling
• Useful for family screening and reproductive risk assessment

Common Clinical Indications

• Persistent or severe neutropenia from infancy or childhood
• Recurrent bacterial or fungal infections
• Delayed wound healing
• Bone marrow maturation arrest
• Suspected inherited bone marrow failure syndrome
• Family history of congenital neutropenia
• Unexplained chronic neutropenia
• Evaluation before hematopoietic stem cell transplantation

Genes Covered

The panel includes clinically relevant genes associated with congenital neutropenia, including:

• ELANE
• HAX1
• G6PC3
• JAGN1
• CXCR4
• VPS45
• CSF3R
• WAS
• SRP54
• TCIRG1
• USB1
• SMARCD2
• GFI1
• SBDS
• CLPB
• Others based on the latest clinical evidence

Sample Required

• Peripheral Blood: 2–5 mL in EDTA tube

Methodology

• Next-Generation Sequencing (NGS)
• Bioinformatics analysis with variant interpretation
• Optional confirmation by Sanger sequencing for clinically significant variants (if required)

Benefits

• Confirms genetic diagnosis
• Enables personalized clinical management
• Assesses risk of progression to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) in specific genetic conditions
• Facilitates genetic counseling and prenatal planning
• Reduces unnecessary diagnostic investigations

Recommended For

• Infants and children with severe congenital neutropenia
• Individuals with chronic unexplained neutropenia
• Patients with recurrent infections and low neutrophil counts
• Families with a history of inherited neutropenia
• Clinicians evaluating inherited bone marrow disorders

Turnaround Time

3–5 Weeks

Why Choose Advanced BioCare Laboratories?

• Comprehensive NGS-based genetic analysis
• High analytical accuracy and quality standards
• Expert clinical variant interpretation
• Reliable reporting with genetic counseling support
• Trusted partner for advanced molecular diagnostics