Short Description

William's 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

William's 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 William's Syndrome: Karyotyping+FISH Cost INR:8250 Symptoms Diagnosis

William's Syndrome, also known as Williams-Beuren Syndrome, is a rare genetic disorder that affects about 1 in every 10,000 people worldwide. It is caused by a deletion of genetic material on chromosome 7, which leads to various physical and developmental abnormalities.

Symptoms of William's Syndrome

The symptoms of William's Syndrome can vary from person to person, but there are some common characteristics that are often seen in people with the disorder. These include:

• A distinctive facial appearance, with a small upturned nose, wide mouth, and full lips
• A small head size and low birth weight
• A friendly and outgoing personality, with a love for music and social interaction
• Developmental delays, especially in speech and language
• Cardiovascular problems, such as supravalvular aortic stenosis (narrowing of the aorta)
• Gastrointestinal problems, such as hernias and constipation
• Musculoskeletal problems, such as joint stiffness and scoliosis

Diagnosing William's Syndrome

Diagnosing William's Syndrome typically involves a combination of physical exams, medical history, and genetic testing. One of the most common tests used to diagnose the disorder is karyotyping and FISH (fluorescence in situ hybridization) analysis.

Karyotyping is a test that looks at the chromosomes in a person's cells to check for any abnormalities. FISH analysis is a more detailed test that looks at specific genes and chromosomes to identify any deletions or mutations.

Karyotyping+FISH Cost INR:8250

The cost of karyotyping and FISH analysis for William's Syndrome in India can vary depending on the laboratory and location. At DNA Labs India, the cost for karyotyping and FISH analysis for William's Syndrome is INR 8250.

Conclusion

William's Syndrome is a rare genetic disorder that can have a significant impact on a person's physical and developmental health. Early diagnosis and intervention can help manage the symptoms and improve the quality of life for people with the disorder. If you suspect that you or someone you know may have William's Syndrome, it is important to speak with a healthcare professional and consider genetic testing.

For more information on karyotyping and FISH analysis for William's Syndrome, please contact DNA Labs India.