Short Description

NGS genetic DNA test detecets for variant and mutation detection in TBX6 gene for Spondylocostal dysostosis type 5

PreTest Information

Clinical History of Patient who is going for TBX6 Gene Spondylocostal dysostosis type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBX6 Gene Spondylocostal dysostosis type 5 NGS Genetic DNA Test gene TBX6

Detail Description

TBX6 Gene Spondylocostal Dysostosis Type 5 NGS Genetic DNA Test

Spondylocostal dysostosis is a rare genetic disorder that affects the development of the spine and ribs. The disorder can cause a range of skeletal abnormalities, including abnormal curvature of the spine, fused ribs, and other bone abnormalities.

Spondylocostal dysostosis type 5 is caused by mutations in the TBX6 gene. This gene provides instructions for making a protein that is involved in the development of the spine and ribs. Mutations in the TBX6 gene can disrupt the normal development of these bones, leading to the skeletal abnormalities seen in spondylocostal dysostosis type 5.

Symptoms of Spondylocostal Dysostosis Type 5

The symptoms of spondylocostal dysostosis type 5 can vary widely from person to person, even among individuals with the same genetic mutation. Some common symptoms include:

• Abnormal curvature of the spine (scoliosis)
• Fused ribs
• Abnormalities in the shape and size of the vertebrae
• Short stature
• Breathing difficulties (in severe cases)

Individuals with spondylocostal dysostosis type 5 may also have other skeletal abnormalities, such as abnormal development of the pelvis or limbs.

Diagnosis of Spondylocostal Dysostosis Type 5

Spondylocostal dysostosis type 5 is diagnosed through genetic testing. Specifically, a next-generation sequencing (NGS) genetic DNA test can be used to analyze the TBX6 gene and identify any mutations that may be present.

If a mutation is identified, additional testing may be necessary to determine the extent of the skeletal abnormalities and any associated health problems.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for TBX6 gene mutations is INR 20,000. This test can be performed at DNA Labs India, a leading provider of genetic testing services in India.

Conclusion

Spondylocostal dysostosis type 5 is a rare genetic disorder that can cause a range of skeletal abnormalities, including abnormal curvature of the spine and fused ribs. This disorder is caused by mutations in the TBX6 gene, which can be identified through NGS genetic DNA testing. If you or a loved one is experiencing symptoms of spondylocostal dysostosis type 5, consider speaking with a genetic counselor or healthcare provider to learn more about the benefits and limitations of genetic testing.

At DNA Labs India, we are committed to providing accurate, reliable, and affordable genetic testing services to our clients. Contact us today to learn more about how we can help you get the answers you need.