FISH for DiGeorge Syndrome (Microdeletion 22q) - Peripheral Blood

FISH, or Fluorescence In Situ Hybridization, uses fluorescent probes that bind to specific DNA sequences on the chromosomes. In this case, the probe binds to the region on chromosome 22 that is often deleted in DiGeorge Syndrome. Under a special microscope, the presence or absence of this segment can be determined.

No, this test can be performed on individuals of any age who are suspected of having DiGeorge Syndrome or have symptoms suggestive of the condition.

While FISH is highly accurate, no test is 100% definitive. There can be variations in the presentation of DiGeorge Syndrome, and sometimes additional testing may be required to confirm the diagnosis.

If the test is positive for the deletion in chromosome 22, it’s important to consult a genetic counselor and a doctor for a comprehensive understanding of the implications and to determine the best course of action.

There is no cure for DiGeorge Syndrome, but various interventions can help manage the symptoms. These can include surgeries, medications, physical therapy, and educational support.

There are no specific risks associated with this blood test. It involves a standard blood draw, which is generally safe.

Yes, if an individual has DiGeorge Syndrome, they have a 50% chance of passing the deleted chromosome to their children.

A genetic counselor can provide information on the genetic aspects of the condition. Additionally, it may be necessary to consult various specialists depending on the symptoms, such as a cardiologist, immunologist, or developmental pediatrician.

Yes, prenatal testing can be done to determine if a fetus has DiGeorge Syndrome. This is usually performed by analyzing a sample of amniotic fluid or cells from the placenta.

There are various support groups and organizations for people affected by DiGeorge Syndrome. A genetic counselor or doctor can provide information on local resources.

Yes, it’s common for individuals with DiGeorge Syndrome to have multiple health issues, including heart conditions, immune system problems, and learning disabilities.

Lifestyle modifications for individuals with DiGeorge Syndrome depend on the severity and nature of the symptoms. Some may require regular medical follow-ups, educational support, and possibly surgeries.

There are no known environmental factors that increase the risk of DiGeorge Syndrome. The majority of cases are due to a new genetic mutation.

Yes, in some cases, DiGeorge Syndrome can be detected later in life, especially if symptoms are mild and were not recognized earlier.

The FISH test for DiGeorge Syndrome is a critical diagnostic tool that can help identify this genetic disorder in individuals of all ages. While there is no cure for DiGeorge Syndrome, early detection and intervention can improve the quality of life for those affected. It's important to consult a genetic counselor and relevant specialists for comprehensive care and management of the condition.