Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL11A1 gene for Marshall syndrome

PreTest Information

Clinical History of Patient who is going for PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test gene PTPN36

Detail Description

Understanding COL11A1 Gene Marshall Syndrome NGS Genetic DNA Test

Marshall syndrome is a rare genetic disorder that affects the development of the body's connective tissue, leading to multiple skeletal abnormalities. This condition is caused by mutations in the COL11A1 gene, which provides instructions for making a protein called type XI collagen. This protein is essential for the formation of cartilage and other connective tissues in the body.

Symptoms of Marshall Syndrome

The signs and symptoms of Marshall syndrome can vary widely from person to person. However, some of the most common symptoms include:

• Short stature
• Abnormal curvature of the spine (scoliosis)
• Joint pain and stiffness
• Flat feet
• Facial abnormalities, such as a small jaw and flattened cheekbones
• Eye problems, such as nearsightedness and cataracts

Diagnosis of Marshall Syndrome

Diagnosis of Marshall syndrome is typically based on a combination of physical examination and genetic testing. A doctor will perform a physical exam to look for characteristic signs and symptoms of the condition, such as short stature and abnormal curvature of the spine. In addition, a genetic test can be used to confirm the presence of a mutation in the COL11A1 gene.

NGS Genetic DNA Test for COL11A1 Gene Marshall Syndrome

Next-generation sequencing (NGS) is a powerful technique that can be used to identify mutations in the DNA sequence of the COL11A1 gene. This test can be used to confirm a diagnosis of Marshall syndrome, as well as to identify carriers of the condition. The NGS genetic DNA test for COL11A1 gene Marshall syndrome is a simple and non-invasive procedure that involves taking a small sample of blood or saliva from the patient.

Cost of NGS Genetic DNA Test for COL11A1 Gene Marshall Syndrome

The cost of the NGS genetic DNA test for COL11A1 gene Marshall syndrome in India is around INR 20,000. This cost may vary depending on the specific testing facility and any additional testing or services that may be required.

Conclusion

Marshall syndrome is a rare genetic disorder that can cause a range of skeletal abnormalities and other health problems. Genetic testing can be used to confirm a diagnosis of Marshall syndrome and to identify carriers of the condition. The NGS genetic DNA test for COL11A1 gene Marshall syndrome is a powerful tool that can help healthcare professionals provide accurate diagnoses and personalized treatment plans for patients with this condition.

If you suspect that you or a loved one may have Marshall syndrome, it is important to speak with a healthcare professional who can provide a proper diagnosis and recommend appropriate treatment options.

At DNA Labs India, we offer a range of genetic testing services, including the NGS genetic DNA test for COL11A1 gene Marshall syndrome. Contact us today to learn more about our testing options and how we can help you get the answers you need.