GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 NGS Genetic DNA Test
Introduction
The GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 NGS Genetic DNA Test is a specialized diagnostic tool that utilizes Next-Generation Sequencing (NGS) technology to identify mutations in the GOSR2 gene. This gene is associated with a rare form of epilepsy known as progressive myoclonus epilepsy type 6. Understanding the genetic basis of this disorder is vital for effective management and treatment planning.
What the Test Measures
This test detects genetic mutations in the GOSR2 gene, which can lead to neurological disorders characterized by myoclonus, seizures, and progressive neurological decline. By analyzing the DNA, the test provides crucial insights into the genetic factors contributing to the condition.
Who Should Consider This Test
This test is particularly recommended for individuals who exhibit symptoms such as:
- Myoclonic seizures
- Progressive muscle stiffness
- Neurological decline
- Family history of progressive myoclonus epilepsy
Patients with risk factors for GOSR2-related disorders should consult with a neurologist to determine the necessity of this test.
Benefits of Taking the Test
- Early diagnosis of genetic disorders.
- Informed treatment options and management strategies.
- Understanding of hereditary risks for family members.
- Guidance for potential genetic counseling.
Understanding Your Results
Results from the GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 test will provide information on the presence of mutations. A genetic counselor can help interpret the results, discuss implications for treatment, and outline the necessary steps for family planning.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today
To take the first step towards understanding your genetic health, book the GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 NGS Genetic DNA Test today. For appointments, please call or WhatsApp us at +2348077798758.
Pre-Test Instructions
Before taking this test, it is essential to have a clinical history of the patient and to undergo a genetic counseling session. This session will help in drawing a pedigree chart of family members affected by GOSR2 Gene Progressive Myoclonus Epilepsy Type 6.
Sample Type
The sample required for this test can be:
- Blood
- Extracted DNA
- One drop of blood on FTA Card
Turnaround Time
The results for the GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 NGS Genetic DNA Test are typically available within 3 to 4 weeks.