Short Description

NGS genetic DNA test detecets for variant and mutation detection in CTC1 gene for Coat plus syndrome

PreTest Information

Clinical History of Patient who is going for CTC1 Gene Coat plus syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CTC1 Gene Coat plus syndrome NGS Genetic DNA Test gene CTC1

Detail Description

CTC1 Gene Coat Plus Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Coat plus syndrome is a rare genetic disorder that affects multiple body systems. It is caused by mutations in the CTC1 gene, which is responsible for maintaining the length of telomeres. Telomeres are the protective caps at the end of chromosomes that ensure the stability of DNA during cell division.

CTC1 gene mutations lead to telomere shortening, which can cause premature aging, bone marrow failure, liver disease, and other health problems. Symptoms of coat plus syndrome can vary widely, but may include:

• Short stature
• Skin abnormalities
• Abnormal nail growth
• Hearing loss
• Anemia
• Immune system dysfunction

Diagnosis of coat plus syndrome can be challenging, as symptoms may be nonspecific and overlap with other conditions. However, genetic testing can help confirm a diagnosis and identify specific mutations in the CTC1 gene.

NGS (next-generation sequencing) genetic testing is a powerful tool for diagnosing genetic disorders like coat plus syndrome. This type of testing can analyze multiple genes simultaneously, providing a comprehensive view of a patient's genetic profile.

DNA Labs India offers a CTC1 gene coat plus syndrome NGS genetic DNA test for INR 20,000. This test uses advanced sequencing technology to detect mutations in the CTC1 gene and other genes associated with coat plus syndrome. Results can be used to confirm a diagnosis, guide treatment decisions, and inform genetic counseling for affected individuals and their families.

Overall, genetic testing is an essential tool for diagnosing and managing rare genetic disorders like coat plus syndrome. If you or a loved one are experiencing symptoms of this condition, speak with a healthcare professional about the benefits of genetic testing.