NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test
Introduction to the Test
The NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test is a specialized genetic test that examines mutations in the NRXN1 gene, which are associated with Pitt-Hopkins syndrome. This condition is characterized by developmental delays, intellectual disabilities, and distinctive facial features. Early diagnosis through this test can significantly impact the management and support provided to affected individuals and their families.
What the Test Measures
This genetic test utilizes Next-Generation Sequencing (NGS) technology to detect specific mutations in the NRXN1 gene. By analyzing the genetic material, the test can identify alterations that may contribute to the development of Pitt-Hopkins syndrome.
Who Should Consider This Test
Individuals who exhibit symptoms such as:
- Developmental delays
- Intellectual disabilities
- Distinctive facial features
- Seizures
- Motor skill challenges
Additionally, those with a family history of Pitt-Hopkins syndrome or related genetic concerns may benefit from this test.
Benefits of Taking the Test
Taking the NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test provides numerous advantages, including:
- Accurate identification of genetic mutations
- Guidance for medical management and intervention strategies
- Informed family planning and risk assessment
- Access to support resources and community connections
Understanding Your Results
Results from the NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test will provide insights into the presence of mutations in the NRXN1 gene. A genetic counselor will assist in interpreting these results, explaining their implications for health and development.
Test Details
| Test Name | Discount Price | Regular Price |
|---|---|---|
| NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test | 400000 NGN | 560000 NGN |
Booking the Test
To book the NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website to schedule your appointment. Ensure you have a clinical history prepared and consider a genetic counseling session to discuss your family’s medical history related to this test.
Turnaround time for results is approximately 3 to 4 weeks, and the sample type required can be blood, extracted DNA, or one drop of blood on an FTA card.
