Short Description

NGS genetic DNA test detecets for variant and mutation detection in ERCC6 gene for De Sanctis-Cacchione syndrome

PreTest Information

Clinical History of Patient who is going for ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic DNA Test gene ERCC6

Detail Description

ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

ERCC6 Gene De Sanctis-Cacchione Syndrome is a rare genetic disorder that affects the development of the nervous system. It is caused by mutations in the ERCC6 gene, which provides instructions for making a protein that is important for DNA repair. The syndrome is named after two Italian doctors, De Sanctis and Cacchione, who first described the condition in the 1960s.

Symptoms of ERCC6 Gene De Sanctis-Cacchione Syndrome

The symptoms of ERCC6 Gene De Sanctis-Cacchione Syndrome can vary widely depending on the severity of the mutation. Some common symptoms include:

• Intellectual disability
• Seizures
• Microcephaly (small head size)
• Growth retardation
• Delayed development
• Abnormalities of the bones and joints

Diagnosis of ERCC6 Gene De Sanctis-Cacchione Syndrome

Diagnosis of ERCC6 Gene De Sanctis-Cacchione Syndrome can be done through genetic testing. Next-generation sequencing (NGS) is a powerful tool used to identify mutations in the ERCC6 gene. The test involves sequencing the entire gene to identify any changes or abnormalities that may be present.

Cost of ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test

The cost of ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the testing center and the specific testing method used.

Conclusion

ERCC6 Gene De Sanctis-Cacchione Syndrome is a rare genetic disorder that affects the development of the nervous system. The syndrome can be diagnosed through genetic testing using next-generation sequencing. The cost of the test in India is approximately INR 20,000. If you suspect that you or a loved one may be affected by this syndrome, it is important to speak to a genetic counselor or healthcare provider for further information and guidance.