How is WAGR Syndrome - 11p Deletion Syndrome diagnosed?
See how WAGR Syndrome - 11p Deletion Syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of WAGR Syndrome - 11p Deletion Syndrome
WAGR Syndrome, also known as 11p Deletion Syndrome, is a rare genetic disorder caused by the deletion of a small piece of chromosome 11. This syndrome is characterized by several features including Wilms tumor (a type of kidney cancer), Aniridia (absence of the iris), Genitourinary anomalies, and intellectual disability. Diagnosing WAGR Syndrome involves a combination of clinical evaluation, genetic testing, and imaging studies.
Clinical evaluation: The first step in diagnosing WAGR Syndrome is a thorough clinical evaluation by a healthcare professional. They will assess the individual's medical history, physical features, and any associated symptoms. The presence of characteristic features such as aniridia, genitourinary anomalies, and intellectual disability can raise suspicion for WAGR Syndrome.
Genetic testing: Genetic testing plays a crucial role in confirming the diagnosis of WAGR Syndrome. The most common method used is a chromosomal microarray analysis (CMA), which can detect small deletions or duplications in the DNA. In the case of WAGR Syndrome, CMA will reveal the deletion of a small piece of chromosome 11, specifically the 11p13 region. This genetic test is typically performed on a blood sample.
Imaging studies: Imaging studies, such as ultrasound or MRI, may be conducted to evaluate the presence of Wilms tumor or genitourinary anomalies. These imaging techniques can help identify any abnormalities in the kidneys or other organs that are commonly associated with WAGR Syndrome.
Additional testing: Depending on the individual's specific symptoms and medical history, additional tests may be recommended. These can include kidney function tests, eye examinations, and developmental assessments to evaluate intellectual disability.
Early diagnosis of WAGR Syndrome is crucial for appropriate management and treatment. Once a diagnosis is confirmed, individuals with WAGR Syndrome can receive specialized medical care and surveillance to monitor for potential complications such as Wilms tumor. Genetic counseling is also an important component of the diagnostic process, as it can provide information about the inheritance pattern and recurrence risk for future pregnancies.
