TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic DNA Test
Introduction
The TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic DNA Test is a vital diagnostic tool for identifying genetic mutations associated with neuronal ceroid lipofuscinosis (NCL), a group of inherited metabolic disorders. This test utilizes Next Generation Sequencing (NGS) technology to provide accurate and comprehensive results, enabling healthcare providers to diagnose and manage this condition effectively.
What the Test Measures
This genetic test specifically measures mutations in the TPP1 gene, which is responsible for producing an enzyme that is crucial for cellular function. Deficiencies in this enzyme lead to the accumulation of lipofuscin, resulting in neurodegeneration and various neurological symptoms.
Who Should Consider This Test?
Individuals who exhibit symptoms such as:
- Progressive vision loss
- Seizures
- Cognitive decline
- Motor skill deterioration
Additionally, those with a family history of neuronal ceroid lipofuscinosis or other metabolic disorders should consider this test for early diagnosis and intervention.
Benefits of Taking the Test
- Early identification of genetic disorders
- Informed decision-making regarding treatment options
- Access to genetic counseling and support
- Understanding familial risk factors for better family planning
Understanding Your Results
Once the test results are available, your healthcare provider will guide you in interpreting them. A positive result indicates the presence of mutations in the TPP1 gene, which may lead to NCL. This information is crucial for developing a management plan tailored to the patient’s needs.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To schedule your TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website. Early diagnosis can make a significant difference in managing your health!
Turnaround time for results is approximately 3 to 4 weeks, and the test can be performed using a blood sample, extracted DNA, or one drop of blood on an FTA card. For best results, a clinical history and genetic counseling session are recommended prior to testing.
