Short Description

Di-George Syndrome (Karyotyping+FISH) is performed using Cell Culture + FISH methodology. Sample that have to be given is Peripheral blood in Sodium heparin Vacutainer (2ml) for this test. You can expect results in 7-10 days

PreTest Information

Di-George Syndrome (Karyotyping+FISH) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Understanding Di-George Syndrome: Symptoms, Diagnosis, and Cost of Karyotyping and FISH Testing in India

Di-George Syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. This condition can affect various parts of the body, leading to a wide range of symptoms that can be mild or severe. In this blog, we will discuss the symptoms, diagnosis, and cost of karyotyping and FISH testing for Di-George Syndrome in India.

Symptoms of Di-George Syndrome

The symptoms of Di-George Syndrome can vary greatly from person to person, as it can affect many different parts of the body. Some of the most common symptoms include:

• Heart defects
• Cleft palate or other facial abnormalities
• Immune system problems
• Learning difficulties or intellectual disability
• Developmental delays
• Low calcium levels
• Hearing loss
• Psychiatric disorders

It is important to note that not all individuals with Di-George Syndrome will experience all of these symptoms, and the severity can vary greatly.

Diagnosis of Di-George Syndrome

Diagnosis of Di-George Syndrome typically involves genetic testing to confirm the deletion of chromosome 22. Two common tests used for diagnosis are karyotyping and FISH testing.

Karyotyping involves analyzing the chromosomes in a sample of cells to look for any abnormalities. This test can detect larger deletions or duplications of genetic material. FISH testing, on the other hand, uses fluorescent dyes to label specific parts of the chromosome, allowing for the detection of smaller deletions or duplications.

If a diagnosis of Di-George Syndrome is suspected, genetic counseling may also be recommended to discuss the implications of the diagnosis and the chances of passing the condition on to future children.

Cost of Karyotyping and FISH Testing in India

The cost of karyotyping and FISH testing for Di-George Syndrome in India can vary depending on the specific laboratory and location. However, on average, the cost for these tests is around INR 8250.

It is important to note that while genetic testing can be helpful in diagnosing Di-George Syndrome, it is not always necessary. A diagnosis can also be made based on a physical examination and a review of the individual's medical history.

Conclusion

Di-George Syndrome is a genetic disorder that can affect many different parts of the body, leading to a wide range of symptoms. Diagnosis typically involves genetic testing, such as karyotyping or FISH testing. The cost for these tests in India averages around INR 8250. If you suspect you or a loved one may have Di-George Syndrome, it is important to speak with a healthcare professional for proper diagnosis and treatment.

For more information on genetic testing and diagnosis, contact DNA Labs India today.