Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPGRIP1L gene for COACH syndrome

PreTest Information

Clinical History of Patient who is going for RPGRIP1L Gene COACH syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RPGRIP1L Gene COACH syndrome

Detail Description

RPGRIP1L Gene COACH Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

COACH syndrome is a rare genetic disorder that affects multiple organs in the body. It is caused by mutations in the RPGRIP1L gene and is inherited in an autosomal recessive manner. The disorder is characterized by cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis.

Symptoms of COACH syndrome

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

• Cerebellar vermis hypoplasia
• Oligophrenia
• Ataxia
• Coloboma
• Hepatic fibrosis

Diagnosis of COACH syndrome

COACH syndrome is diagnosed through genetic testing. Specifically, the RPGRIP1L gene is analyzed using next-generation sequencing (NGS) technology. This test can identify mutations in the gene that are associated with COACH syndrome.

RPGRIP1L Gene COACH Syndrome NGS Genetic DNA Test Cost

The cost of the RPGRIP1L Gene COACH Syndrome NGS Genetic DNA Test in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and location where the test is performed.

Conclusion

COACH syndrome is a rare genetic disorder that affects multiple organs in the body. It is caused by mutations in the RPGRIP1L gene and is diagnosed through genetic testing using NGS technology. The cost of the test in India is approximately INR 20,000. If you suspect that you or someone you know may have COACH syndrome, it is important to consult with a medical professional to discuss testing options and potential treatment options.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for RPGRIP1L Gene COACH syndrome NGS Genetic DNA Test