Short Description

NGS genetic DNA test detecets for variant and mutation detection in BCS1L gene for Bjornstad syndrome

PreTest Information

Clinical History of Patient who is going for BCS1L Gene Bjornstad syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BCS1L Gene Bjornstad syndrome NGS Genetic DNA Test gene BCS1L

Detail Description

BCS1L Gene Bjornstad Syndrome NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

When it comes to genetic diseases, early detection and diagnosis are essential in managing the symptoms and providing proper treatment. Bjornstad syndrome is a rare genetic disorder that affects the hearing and hair of an individual. The syndrome is caused by mutations in the BCS1L gene, which is responsible for encoding a protein that is crucial in the production of energy in cells.

Symptoms of Bjornstad Syndrome

Bjornstad syndrome is characterized by two main symptoms: hearing loss and abnormal hair growth. Individuals with the syndrome may experience congenital hearing loss or progressive hearing loss, which can lead to complete deafness. On the other hand, abnormal hair growth is often characterized by the presence of twisted and brittle hair that breaks easily.

Diagnosis of Bjornstad Syndrome

The diagnosis of Bjornstad syndrome is often made through genetic testing. Next-generation sequencing (NGS) is a popular method used to identify mutations in the BCS1L gene. NGS is a high-throughput DNA sequencing technology that allows for the analysis of multiple genes simultaneously, making it an efficient and cost-effective method for genetic testing.

BCS1L Gene Bjornstad Syndrome NGS Genetic DNA Test Cost INR 20,000

DNA Labs India offers a comprehensive NGS genetic DNA test for Bjornstad syndrome at a cost of INR 20,000. The test includes the sequencing of the BCS1L gene, along with other genes that are associated with hearing loss and hair abnormalities. The test results are provided within 4-6 weeks and include a detailed report of the mutations identified, along with recommendations for further medical evaluation and treatment.

Conclusion

Bjornstad syndrome is a rare genetic disorder that requires early detection and diagnosis for effective management of symptoms. DNA Labs India offers a comprehensive NGS genetic DNA test for Bjornstad syndrome at an affordable cost of INR 20,000. With the test results, individuals can take proactive steps towards managing the symptoms and receiving appropriate treatment.

Contact DNA Labs India to schedule your NGS genetic DNA test for Bjornstad syndrome today!