Short Description

NGS genetic DNA test detecets for variant and mutation detection in SMARCE1 gene for Coffin-Siris syndrome, SMARCE1 related

PreTest Information

Clinical History of Patient who is going for SMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic DNA Test gene SMARCE1

Detail Description

SMARCE1 Gene and Coffin-Siris Syndrome: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

SMARCE1 gene is a protein-coding gene that is responsible for encoding a subunit of the SWI/SNF complex. This complex plays a crucial role in the regulation of gene expression, DNA repair, and chromatin remodeling. Mutations in the SMARCE1 gene have been linked to a rare genetic disorder known as Coffin-Siris Syndrome (CSS).

What is Coffin-Siris Syndrome?

Coffin-Siris Syndrome is a rare genetic disorder that affects various parts of the body. It is characterized by developmental delay, intellectual disability, distinctive facial features, and abnormalities of the fingers and toes. Other symptoms may include feeding difficulties, respiratory problems, seizures, and hearing loss. The severity of the symptoms can vary widely from person to person, even among members of the same family.

Diagnosis of Coffin-Siris Syndrome

The diagnosis of Coffin-Siris Syndrome is based on a combination of clinical features, medical history, and genetic testing. The distinctive facial features and abnormalities of the fingers and toes may suggest the diagnosis, but genetic testing is necessary to confirm it.

Next-generation sequencing (NGS) genetic testing is a powerful tool for the diagnosis of Coffin-Siris Syndrome. It can detect mutations in the SMARCE1 gene and other genes associated with the disorder. NGS testing can provide a definitive diagnosis, as well as important information about the inheritance pattern of the disorder and the risk of recurrence in future pregnancies.

NGS Genetic DNA Test Cost for SMARCE1 Gene

The cost of NGS genetic testing for the SMARCE1 gene can vary depending on the laboratory and the specific testing method used. However, the average cost of this test in India is around INR 20,000.

Conclusion

Coffin-Siris Syndrome is a rare genetic disorder that can have significant impacts on affected individuals and their families. NGS genetic testing for the SMARCE1 gene is an effective tool for the diagnosis of this disorder and can provide important information about the inheritance pattern and the risk of recurrence in future pregnancies. If you suspect that you or a loved one may have Coffin-Siris Syndrome, talk to your doctor about genetic testing options.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS testing for Coffin-Siris Syndrome and other genetic disorders. Our experienced team of genetic counselors and scientists can provide you with the information and support you need to make informed decisions about your health and the health of your family.

Contact us today to learn more about our genetic testing services and how we can help you.