VPS53 Gene Pontocerebellar Hypoplasia Type 2E NGS Genetic DNA Test
Introduction
The VPS53 Gene Pontocerebellar Hypoplasia Type 2E NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the VPS53 gene, which are associated with pontocerebellar hypoplasia type 2E, a rare neurological disorder. This test employs Next Generation Sequencing (NGS) technology, providing a comprehensive analysis of the gene to help in the diagnosis and management of this condition.
What the Test Measures
This genetic test detects alterations in the VPS53 gene, which plays a crucial role in the functioning of nerve cells in the brain. By identifying these genetic mutations, healthcare providers can better understand the underlying causes of neurological symptoms.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms of neurological disorders, especially if there is a family history of pontocerebellar hypoplasia. Symptoms may include developmental delays, motor coordination issues, and other neurological impairments. Those with risk factors such as a family history of genetic disorders should also consider this test.
Benefits of Taking the Test
- Provides clarity on genetic conditions affecting the nervous system.
- Helps in making informed decisions about family planning and management of symptoms.
- Facilitates early diagnosis and intervention, potentially improving patient outcomes.
- Guides treatment options and management strategies based on genetic findings.
Understanding Your Results
Once the test is completed, results will be provided along with a detailed explanation of any genetic alterations detected. It is essential to consult with a genetic counselor or neurologist to interpret these results accurately and understand their implications for health and family members.
Test Information
| Test Name | Price (NGN) |
|---|---|
| VPS53 Gene Pontocerebellar Hypoplasia Type 2E NGS Genetic DNA Test | Discount Price: 400,000 NGN |
| Regular Price: 560,000 NGN |
Booking the Test
To book the VPS53 Gene Pontocerebellar Hypoplasia Type 2E NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling and any inquiries you may have.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to the test, a clinical history of the patient is needed, along with a genetic counseling session to draw a pedigree chart of family members affected by the VPS53 gene disorder.
Consultation with a neurologist is advised for those considering this test, as it falls under the specialty of genetics and addresses neurological disorders.
