Short Description

NGS genetic DNA test detecets for variant and mutation detection in MESP2 gene for Spondylocostal dysostosis, autosomal recessive type 2

PreTest Information

Clinical History of Patient who is going for MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 NGS Genetic DNA Test gene MESP2

Detail Description

MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 NGS Genetic DNA Test

Introduction

Spondylocostal dysostosis is a rare genetic disorder characterized by abnormal spinal and rib development. It is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. There are different types of spondylocostal dysostosis, and one of them is autosomal recessive type 2, which is caused by mutations in the MESP2 gene.

Symptoms

The symptoms of MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 vary from person to person, but they often include:

• Abnormal curvature of the spine (scoliosis or kyphosis)
• Abnormal development of the ribs
• Short stature
• Breathing difficulties
• Cardiovascular problems
• Facial abnormalities (in some cases)

Diagnosis

MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can sequence multiple genes simultaneously, which makes it an efficient and cost-effective option for genetic testing. DNA Labs India offers MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 NGS Genetic DNA Test at a cost of INR 20,000.

Conclusion

MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 is a rare genetic disorder that affects the development of the spine and ribs. The symptoms of this condition can vary, but they often include abnormal curvature of the spine, short stature, breathing difficulties, and cardiovascular problems. Genetic testing, such as NGS, can help diagnose this condition. If you suspect that you or someone you know may have MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2, contact DNA Labs India for more information about testing.