FISH Microdeletion Detection for Williams Syndrome Test
Introduction
The FISH Microdeletion Detection for Williams Syndrome Test is a specialized genetic test that uses Fluorescence In Situ Hybridization (FISH) technology to detect microdeletions on chromosome 7, which are associated with Williams Syndrome. This condition is characterized by developmental delays, cardiovascular issues, and distinctive facial features. Early diagnosis is crucial for effective management and intervention, making this test an essential tool for pediatricians and genetic specialists.
What the Test Measures
This test specifically measures the presence of microdeletions in the 7q11.23 region of chromosome 7, which is linked to Williams Syndrome. By identifying these genetic anomalies, healthcare providers can better understand a patient’s condition and tailor appropriate treatment plans.
Who Should Consider This Test
Individuals who exhibit symptoms such as:
- Developmental delays
- Cardiovascular problems
- Distinctive facial features including a broad forehead and full cheeks
- Learning disabilities
Additionally, those with a family history of genetic disorders or who have been referred by a healthcare professional should consider this test.
Benefits of Taking the Test
- Early identification of Williams Syndrome, allowing for timely intervention.
- Helps in planning for medical and educational support.
- Provides peace of mind for families with a genetic predisposition.
- Facilitates informed decision-making regarding healthcare and lifestyle.
Understanding Your Results
Results from the FISH Microdeletion Detection for Williams Syndrome Test will indicate the presence or absence of the microdeletion. A positive result confirms the diagnosis of Williams Syndrome, while a negative result suggests that the syndrome is unlikely. It is essential to discuss the results with a qualified healthcare provider to understand their implications fully.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| FISH Microdeletion Detection for Williams Syndrome Test | 170,000 NGN | 240,000 NGN |
How to Book the Test
To book the FISH Microdeletion Detection for Williams Syndrome Test, please contact us at +2348077798758. Ensure you have a duly filled Chromosome & FISH analysis Requisition Form (Form 17) ready before your appointment. Our lab accepts samples daily by 4 pm, with reports available within 4 working days.
Pre-Test Instructions
It is mandatory to have the Chromosome & FISH analysis Requisition Form (Form 17) filled out before your test. Please ensure that you follow all instructions to guarantee accurate results.
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