Short Description

NGS genetic DNA test detecets for variant and mutation detection in chr. 7q11.23 gene for Williams-Beuren syndrome

PreTest Information

Clinical History of Patient who is going for chr. 7q11.23 Gene Williams-Beuren syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with chr. 7q11.23 Gene Williams-Beuren syndrome NGS Genetic DNA Test gene chr. 7q11.23

Detail Description

Understanding Chr. 7q11.23 Gene Williams-Beuren Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Williams-Beuren syndrome (WBS) is a rare genetic disorder that affects around 1 in 7,500 to 10,000 people worldwide. It is caused by a deletion of genetic material in chromosome 7 at the q11.23 region. This deletion affects the genes that control the development of the cardiovascular system, facial features, and cognitive abilities.

Symptoms of Williams-Beuren Syndrome

Williams-Beuren Syndrome (WBS) presents with a range of physical and cognitive symptoms. These symptoms include:

• Distinctive facial features such as a small upturned nose, wide mouth, and full lips
• Developmental delay and learning difficulties
• Hyperacusis (sensitivity to loud noises)
• Cardiovascular problems such as high blood pressure, heart murmur, and narrowing of the aorta
• Short stature and delayed growth

Diagnosis of Williams-Beuren Syndrome

Diagnosis of Williams-Beuren Syndrome can be confirmed through genetic testing. Specifically, a DNA test called Next-Generation Sequencing (NGS) can be used to detect the deletion in chromosome 7q11.23. NGS is a highly accurate and sensitive test that can detect even small deletions in the genome.

Cost of Williams-Beuren Syndrome NGS Genetic DNA Test

The cost of Williams-Beuren Syndrome NGS Genetic DNA Test in India is approximately INR 20,000. This test is offered by DNA Labs India, a leading provider of genetic testing services in India.

Conclusion

Williams-Beuren Syndrome is a rare genetic disorder that can cause a range of physical and cognitive symptoms. Diagnosis of this condition can be confirmed through genetic testing, specifically NGS. The cost of Williams-Beuren Syndrome NGS Genetic DNA Test in India is approximately INR 20,000. Early diagnosis of Williams-Beuren Syndrome is important to ensure appropriate medical management and support for affected individuals and their families.

If you suspect that you or someone you know may have Williams-Beuren Syndrome, it is important to seek medical advice and genetic testing as soon as possible. DNA Labs India offers a range of genetic testing services, including NGS, to help diagnose and manage genetic conditions. Contact DNA Labs India today to learn more about our services and how we can help you.