DiGeorge Syndrome Karyotyping FISH
Introduction to DiGeorge Syndrome Karyotyping FISH
DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder that can lead to a variety of health issues, including heart defects, immune system problems, and developmental delays. The Karyotyping FISH (Fluorescence In Situ Hybridization) test is a specialized diagnostic tool that helps detect chromosomal abnormalities associated with this syndrome. By identifying these genetic issues, healthcare providers can offer appropriate interventions and management strategies to improve patient outcomes.
What the Test Measures
The DiGeorge Syndrome Karyotyping FISH test specifically measures the presence of deletions in chromosome 22, which is often implicated in DiGeorge Syndrome. This test utilizes advanced cell culture techniques combined with FISH to provide accurate and reliable results.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Patients exhibiting symptoms such as heart defects, cleft palate, or immune deficiencies.
- Individuals with a family history of genetic disorders.
- Those who have been referred by a healthcare provider, particularly a gynecologist or genetic counselor.
Benefits of Taking the Test
Taking the DiGeorge Syndrome Karyotyping FISH test offers several benefits:
- Early detection of genetic abnormalities, allowing for timely intervention.
- Informed family planning and risk assessment for future pregnancies.
- Access to specialized care and support services tailored to the patient’s needs.
Understanding Your Results
Results from the DiGeorge Syndrome Karyotyping FISH test typically take 10-12 days. A positive result indicates the presence of a chromosomal deletion associated with DiGeorge Syndrome, while a negative result suggests that no such abnormalities were detected. It is essential to discuss your results with your healthcare provider to understand the implications and next steps.
Test Information and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| DiGeorge Syndrome Karyotyping FISH | 165,000 NGN | 220,000 NGN |
Booking the Test
To book the DiGeorge Syndrome Karyotyping FISH test, a Doctor’s prescription is required. Please note that this test is not applicable for surgical cases, pregnancy, or individuals planning to travel abroad. For more information or to schedule your test, contact us at +2348077798758 or visit our website.
