Pafah1b1 Gene Lissencephaly Type 1 NGS Genetic DNA Test
Introduction
The Pafah1b1 Gene Lissencephaly Type 1 NGS Genetic DNA Test is a specialized genetic examination that plays a critical role in diagnosing lissencephaly, a severe brain malformation characterized by smooth brain surfaces due to abnormal neuronal migration during fetal development. This test utilizes Next Generation Sequencing (NGS) technology to identify mutations in the PAFAH1B1 gene, which are often linked to significant developmental and neurological challenges in affected individuals.
What the Test Measures
This genetic test specifically detects mutations in the PAFAH1B1 gene, responsible for coding a protein that is essential for normal brain development. Identifying these mutations can provide insights into the underlying causes of lissencephaly and assist in the management of the condition.
Who Should Consider This Test
This test is recommended for:
- Individuals with a family history of lissencephaly or other neurodevelopmental disorders.
- Patients exhibiting symptoms such as developmental delays, seizures, or abnormal brain imaging findings.
- Parents who have had children diagnosed with lissencephaly to understand potential genetic risks for future pregnancies.
Benefits of Taking the Test
Taking the Pafah1b1 Gene Lissencephaly Type 1 NGS Genetic DNA Test offers several advantages:
- Accurate diagnosis of lissencephaly and related genetic conditions.
- Informed family planning and risk assessment for future pregnancies.
- Guidance for tailored therapeutic interventions and management strategies.
- Access to genetic counseling services for affected families.
Understanding Your Results
Results from the Pafah1b1 Gene Lissencephaly Type 1 NGS Genetic DNA Test will typically be available within 3 to 4 weeks. A genetic counselor will help interpret the findings, explaining the implications of any identified mutations and discussing potential next steps for management and support.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Pafah1b1 Gene Lissencephaly Type 1 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To schedule your Pafah1b1 Gene Lissencephaly Type 1 NGS Genetic DNA Test, please call or WhatsApp us at +2348110567037. Our team is ready to assist you through the booking process and answer any questions you may have.
Pre-Test Instructions
Before undergoing the test, it is essential to provide a clinical history of the patient. Additionally, a genetic counseling session is recommended to create a pedigree chart of family members affected by the PAFAH1B1 gene.
