Nx Gen Sequencing 4H Syndrome Test
Introduction to Nx Gen Sequencing 4H Syndrome Test
The Nx Gen Sequencing 4H Syndrome Test is an advanced genetic diagnostic tool that plays a crucial role in identifying multiple genetic defects associated with 4H syndrome. This syndrome is characterized by a combination of neurological and developmental disorders, making early diagnosis essential for effective management and treatment. By utilizing next-generation sequencing (NGS) and Sanger sequencing methods, this test provides comprehensive insights into the genetic underpinnings of the condition.
What the Test Measures
This test specifically targets the POLR3A and POLR3B genes, which are instrumental in the development of 4H syndrome. By analyzing these genes, healthcare providers can identify mutations that may contribute to the syndrome, allowing for tailored treatment plans for affected individuals.
Who Should Consider This Test?
The Nx Gen Sequencing 4H Syndrome Test is recommended for:
- Individuals exhibiting symptoms of neurological disorders.
- Patients with developmental delays or intellectual disabilities.
- Those with a family history of genetic disorders.
- Patients referred by neurologists, dentists, or pediatricians for further genetic evaluation.
Benefits of Taking the Test
Undergoing the Nx Gen Sequencing 4H Syndrome Test offers several benefits:
- Accurate identification of genetic mutations related to 4H syndrome.
- Guidance for treatment options and management strategies.
- Informed family planning for individuals with a family history of genetic disorders.
- Peace of mind through understanding the genetic basis of symptoms.
Understanding Your Results
Results from the Nx Gen Sequencing 4H Syndrome Test will be provided within 40 working days. It is important to discuss these results with a healthcare provider who can interpret the findings and recommend appropriate next steps based on the genetic information obtained.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Nx Gen Sequencing 4H Syndrome Test | 468000 NGN | 520000 NGN |
How to Book the Test
To book the Nx Gen Sequencing 4H Syndrome Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and answer any questions you may have.
Sample Requirements
For this test, please submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. It is crucial to ship the samples refrigerated and to not freeze them. Additionally, a duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Pre-Test Instructions
Ensure that you have completed and submitted the Whole Exome Sequencing Consent Form (Form 37) before your appointment.
Specialties Involved
This test is typically ordered by specialists in the fields of neurology, dentistry, and pediatrics, and falls under the department of Molecular Diagnostics.
Take the first step towards understanding your genetic health by booking the Nx Gen Sequencing 4H Syndrome Test today!
