Short Description

NGS genetic DNA test detecets for variant and mutation detection in LFNG gene for Spondylocostal dysostosis, autosomal recessive type 3

PreTest Information

Clinical History of Patient who is going for LFNG Gene Spondylocostal dysostosis, autosomal recessive type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LFNG Gene Spondylocostal dysostosis, autosomal recessive type 3 NGS Genetic DNA Test gene LFNG

Detail Description

LFNG Gene Spondylocostal Dysostosis, Autosomal Recessive Type 3 NGS Genetic DNA Test

Spondylocostal dysostosis is a rare genetic disorder that affects the development of the spine and ribs. It is caused by mutations in genes that play a role in the formation of the vertebrae and ribs. There are different types of spondylocostal dysostosis, each caused by mutations in different genes. Autosomal recessive type 3 spondylocostal dysostosis is caused by mutations in the LFNG gene.

Symptoms of Spondylocostal Dysostosis

The symptoms of spondylocostal dysostosis can vary depending on the type of the disorder and the severity of the mutations. Common symptoms of spondylocostal dysostosis include:

• Abnormal curvature of the spine (scoliosis or kyphosis)
• Abnormal shape or number of ribs
• Short stature
• Breathing difficulties
• Heart defects

Diagnosis of Spondylocostal Dysostosis

Spondylocostal dysostosis is typically diagnosed through a combination of clinical evaluation, imaging tests, and genetic testing. Imaging tests such as X-rays, CT scans, and MRI scans can show abnormalities in the spine and ribs. Genetic testing can confirm the diagnosis and identify the specific gene mutations responsible for the disorder.

NGS Genetic DNA Test for LFNG Gene Spondylocostal Dysostosis, Autosomal Recessive Type 3

NGS (Next-Generation Sequencing) genetic DNA testing is a powerful tool for diagnosing genetic disorders such as spondylocostal dysostosis. It allows for the simultaneous analysis of multiple genes, making it faster and more efficient than traditional genetic testing methods.

The LFNG gene NGS genetic DNA test is specifically designed to identify mutations in the LFNG gene associated with autosomal recessive type 3 spondylocostal dysostosis. The test is performed on a blood or saliva sample and typically takes several weeks to produce results.

Cost of LFNG Gene Spondylocostal Dysostosis NGS Genetic DNA Test

The cost of the LFNG gene spondylocostal dysostosis NGS genetic DNA test in India is typically around INR 20,000. The cost may vary depending on the specific testing facility and the level of testing required.

Conclusion

Spondylocostal dysostosis is a rare genetic disorder that can cause significant health problems. Early diagnosis through genetic testing can help individuals with the disorder receive appropriate medical care and genetic counseling. The LFNG gene NGS genetic DNA test is a powerful tool for diagnosing autosomal recessive type 3 spondylocostal dysostosis and can be performed at a reasonable cost in India.