Chr 7q11.23 Gene Williams-Beuren Syndrome NGS Genetic DNA Test
Introduction to the Test
The Chr 7q11.23 Gene Williams-Beuren Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to detect genetic abnormalities associated with Williams-Beuren syndrome. This syndrome is characterized by distinct physical features, developmental delays, and cardiovascular issues. Utilizing Next Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the genetic material, helping healthcare providers make informed decisions about patient care.
What the Test Measures
This test specifically measures the presence of mutations in the 7q11.23 region of chromosome 7, which is linked to Williams-Beuren syndrome. By analyzing the DNA, clinicians can identify genetic variations that may lead to the syndrome, thus aiding in timely diagnosis and management.
Who Should Consider This Test?
The Chr 7q11.23 Gene Williams-Beuren Syndrome NGS Genetic DNA Test is recommended for individuals exhibiting symptoms such as:
- Distinctive facial features (e.g., broad forehead, full cheeks)
- Developmental delays and learning disabilities
- Cardiovascular problems, particularly supravalvular aortic stenosis
- Family history of Williams-Beuren syndrome
If you or a family member display these symptoms or have a known family history, consider discussing this test with your healthcare provider.
Benefits of Taking the Test
- Early diagnosis allows for timely intervention and management of symptoms.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the genetic basis of the condition, leading to better-informed healthcare decisions.
- Offers peace of mind for families affected by the syndrome.
Understanding Your Results
Upon completion of the test, results will be interpreted by a qualified geneticist. It is essential to discuss the results with your healthcare provider to understand their implications fully. Positive results may lead to further assessments and tailored management plans, while negative results can provide reassurance.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| Chr 7q11.23 Gene Williams-Beuren Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the Chr 7q11.23 Gene Williams-Beuren Syndrome NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website. Our team is here to assist you with the booking process and answer any questions you may have.
Turnaround Time and Sample Type
The expected turnaround time for results is approximately 3 to 4 weeks. The test can be performed using:
- Blood sample
- Extracted DNA
- One drop of blood on FTA Card
Pre-Test Instructions
Before undergoing the test, it is essential to provide a clinical history and participate in a genetic counseling session. This session will help draw a pedigree chart of family members affected by the condition, ensuring accurate testing and interpretation.
