Understanding the Symptoms of FISH – 22q11.2 Deletion Syndrome, commonly known as DiGeorge Syndrome or Velocardiofacial Syndrome (VCFS), is crucial for early diagnosis and management of the condition. This genetic disorder is caused by a deletion of a small segment of chromosome 22 and can affect multiple body systems, leading to a wide range of health problems.
What is FISH – 22q11.2 Deletion Syndrome?
FISH (Fluorescence In Situ Hybridization) – 22q11.2 Deletion Syndrome, also known as DiGeorge Syndrome or Velocardiofacial Syndrome (VCFS), is a disorder caused by a deletion of a small part of chromosome 22. This deletion affects the development of several body systems, leading to various health issues. It is one of the most common genetic disorders, affecting approximately 1 in 4,000 people.
Symptoms of 22q11.2 Deletion Syndrome
The symptoms of 22q11.2 Deletion Syndrome can vary widely among individuals. Some may experience mild symptoms, while others may have severe complications. Common symptoms include:
- Heart defects, particularly conotruncal abnormalities
- Immune system deficiencies leading to increased infections
- Cleft palate or other palate abnormalities
- Distinctive facial features, such as a long face, hooded eyelids, and a bulbous nose
- Learning difficulties and developmental delays
- Speech and feeding problems
- Low calcium levels in the blood, which can cause seizures
- Behavioral issues, including ADHD and autism spectrum disorders
Importance of Early Diagnosis
Early diagnosis of 22q11.2 Deletion Syndrome is essential for managing the condition effectively. By identifying the disorder early, healthcare providers can monitor and address the various health issues associated with the syndrome, such as heart defects, immune system deficiencies, and developmental delays. Early intervention can significantly improve the quality of life for individuals with this condition.
LSI DiGeorge VCFS Test
The LSI DiGeorge VCFS Test is a specialized diagnostic tool used to detect the 22q11.2 deletion, confirming the diagnosis of DiGeorge Syndrome or Velocardiofacial Syndrome. This test utilizes Fluorescence In Situ Hybridization (FISH) technology to identify the specific chromosome deletion associated with the syndrome.
Test Cost
The cost of the LSI DiGeorge VCFS Test at DNA Labs UAE is 1310 AED. This test is an important investment in the health and well-being of individuals suspected of having this genetic disorder, providing a definitive diagnosis and guiding appropriate management and treatment strategies.
Conclusion
Understanding and recognizing the symptoms of FISH – 22q11.2 Deletion Syndrome is crucial for early diagnosis and effective management. If you suspect that you or a loved one may have this condition, consider the LSI DiGeorge VCFS Test. For more information and to schedule a test, visit DNA Labs UAE.
