VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive NGS Genetic DNA Test
Introduction
The VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the VPS45 gene that lead to severe congenital neutropenia. This hereditary condition significantly affects the body’s ability to produce neutrophils, a type of white blood cell essential for fighting infections. Understanding the genetic basis of this condition is crucial for effective management and treatment.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to detect specific mutations in the VPS45 gene. By analyzing the genetic material, healthcare providers can determine if a patient has inherited the mutations responsible for this severe form of neutropenia.
Who Should Consider This Test?
Individuals with a family history of severe congenital neutropenia or those exhibiting symptoms such as recurrent infections, fever, or skin lesions should consider this test. Risk factors include:
- Family history of neutropenia
- Symptoms of recurrent infections
- Previous diagnosis of unexplained low neutrophil levels
Benefits of Taking the Test
Taking the VPS45 Gene Neutropenia test offers several benefits:
- Accurate diagnosis of genetic neutropenia
- Guidance for treatment options and management strategies
- Informed family planning and genetic counseling
- Enhanced understanding of the condition and its implications
Understanding Your Results
Results from the VPS45 Gene Neutropenia test will indicate whether mutations are present. A genetic counselor will help interpret these results, discussing their implications for treatment and management. It is essential for patients to understand the outcomes to make informed healthcare decisions.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
To book the VPS45 Gene Neutropenia test or for more information, please contact us at +2348077798758. Our dedicated team is here to assist you with scheduling your appointment and answering any questions you may have.
Turnaround time for results is approximately 3 to 4 weeks, and the sample type required is either blood or extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history and genetic counseling session are recommended to draw a pedigree chart of affected family members.
