Short Description

NGS genetic DNA test detecets for variant and mutation detection in CLCN4 gene for Raynaud-Claes syndrome

PreTest Information

Clinical History of Patient who is going for CLCN4 Gene Raynaud-Claes syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CLCN4 Gene Raynaud-Claes syndrome

Detail Description

Understanding CLCN4 Gene and Raynaud-Claes Syndrome: NGS Genetic DNA Test Cost INR:20000, Symptoms, and Diagnosis

Raynaud-Claes Syndrome is a rare genetic disorder that affects the development of bones and teeth. It is caused by mutations in the CLCN4 gene, which is responsible for the regulation of chloride ion channels in the body. CLCN4 gene mutations result in the abnormal development of teeth and bones, leading to Raynaud-Claes Syndrome.

NGS Genetic DNA Test is a powerful tool that can help diagnose Raynaud-Claes Syndrome by analyzing the DNA sequence of the CLCN4 gene. The test can detect mutations in the gene, allowing for early diagnosis and treatment of the syndrome. The cost of the test is INR:20000.

Symptoms of Raynaud-Claes Syndrome

The symptoms of Raynaud-Claes Syndrome can vary depending on the severity of the mutations in the CLCN4 gene. Some common symptoms include:

• Abnormal development of teeth
• Abnormal development of bones
• Delayed tooth eruption
• Small teeth
• Thin tooth enamel
• Short stature
• Thin bones
• Frequent fractures

Some individuals with Raynaud-Claes Syndrome may also experience hearing loss or vision problems.

Diagnosis of Raynaud-Claes Syndrome

Diagnosis of Raynaud-Claes Syndrome can be made through a combination of physical examination and genetic testing. A doctor may perform a physical examination to look for abnormalities in the teeth and bones. Genetic testing can be used to detect mutations in the CLCN4 gene.

NGS Genetic DNA Test is a powerful tool that can help diagnose Raynaud-Claes Syndrome by analyzing the DNA sequence of the CLCN4 gene. The test can detect mutations in the gene, allowing for early diagnosis and treatment of the syndrome. The cost of the test is INR:20000.

Conclusion

Raynaud-Claes Syndrome is a rare genetic disorder that affects the development of bones and teeth. It is caused by mutations in the CLCN4 gene, which is responsible for the regulation of chloride ion channels in the body. NGS Genetic DNA Test is a powerful tool that can help diagnose Raynaud-Claes Syndrome by analyzing the DNA sequence of the CLCN4 gene. The test can detect mutations in the gene, allowing for early diagnosis and treatment of the syndrome. The cost of the test is INR:20000. If you suspect that you or a loved one may have Raynaud-Claes Syndrome, it is important to speak with a doctor about getting tested.

For more information about NGS Genetic DNA Test for Raynaud-Claes Syndrome and other genetic tests, contact DNA Labs India.

Raynaud's syndrome, also known as Raynaud's phenomenon or Raynaud's disease, is a vascular disorder characterized by episodes of reduced blood flow to the extremities (usually fingers and toes) in response to cold temperatures or emotional stress. This can lead to color changes in the skin and numbness or pain in the affected areas.

The CLCN4 gene is involved in encoding a chloride channel protein. Mutations in the CLCN4 gene have been associated with certain genetic disorders, but I don't have information about a direct link to Raynaud's syndrome or Raynaud-Claes Syndrome.

If you're looking for information about a specific genetic test or disorder, it's recommended to consult with a medical geneticist, genetic counselor, or healthcare provider who specializes in the area. They can provide you with the most up-to-date and accurate information about genetic conditions, associated genes, and available genetic tests. Medical knowledge is continually advancing, so it's always best to consult with professionals who are knowledgeable in the field.