Short Description

NGS genetic DNA test detecets for variant and mutation detection in RAB23 gene for Carpenter syndrome

PreTest Information

Clinical History of Patient who is going for RAB23 Gene Carpenter syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RAB23 Gene Carpenter syndrome NGS Genetic DNA Test gene RAB23

Detail Description

RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Carpenter syndrome is a rare genetic disorder that affects many parts of the body. This condition is caused by mutations in the RAB23 gene. Carpenter syndrome is characterized by various skeletal abnormalities, such as craniosynostosis, which is the premature fusion of the skull bones, and polydactyly, which is the presence of extra fingers or toes. Other symptoms of Carpenter syndrome include obesity, intellectual disability, and dental abnormalities.

Diagnosis of Carpenter Syndrome

The diagnosis of Carpenter syndrome is usually made based on the clinical symptoms and a thorough physical examination. Genetic testing is also available to confirm the diagnosis. Next-generation sequencing (NGS) is one such genetic testing method that can be used to detect mutations in the RAB23 gene. NGS is a high-throughput DNA sequencing technology that can sequence multiple genes at once. This makes it a valuable tool for the diagnosis of genetic disorders like Carpenter syndrome.

Cost of NGS Genetic DNA Test

The cost of NGS genetic DNA test for Carpenter syndrome in India is around INR 20,000. This cost may vary depending on the laboratory where the test is conducted and the specific genetic testing method used.

Symptoms of Carpenter Syndrome

The symptoms of Carpenter syndrome can vary from person to person, but some common symptoms include:

• Craniosynostosis
• Polydactyly
• Obesity
• Intellectual disability
• Dental abnormalities
• Facial abnormalities
• Heart defects

Conclusion

Carpenter syndrome is a rare genetic disorder caused by mutations in the RAB23 gene. Diagnosis is usually made based on the clinical symptoms and genetic testing, such as NGS. The cost of NGS genetic DNA test for Carpenter syndrome in India is around INR 20,000. Early diagnosis and intervention can help manage the symptoms of Carpenter syndrome and improve the quality of life of affected individuals.

If you suspect that you or someone you know may have Carpenter syndrome, it is important to consult a healthcare professional for proper diagnosis and treatment. DNA Labs India provides NGS genetic DNA testing for Carpenter syndrome and other genetic disorders. Contact us today for more information.