Short Description

Leber Congenital Amaurosis (LCA) is an eye disorder that primarily affects the retina. LCA is also associated with other vision problems, photophobia, nystagmus and hyperopia. There are many different types of LCA distinguished by their genetic cause, patterns of vision loss and related eye abnormalities. Mutations in several different genes on different chromosomes are associated with the different types of LCA. This test is useful for the genetic determination of this disorder.

PreTest Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Detail Description

Nx GEN SEQUENCING: LEBER CONGENITAL AMAUROSIS Test cost INR:28665 symptoms diagnosis

Leber Congenital Amaurosis (LCA) is a rare genetic disorder that affects the retina of the eye, causing severe vision loss or blindness in infants and children. NxGen Sequencing is a genetic testing technique that can be used to diagnose LCA and other genetic disorders.

Symptoms of Leber Congenital Amaurosis

The symptoms of LCA usually appear in the first few months of life and include:

• Poor vision in low light
• Nystagmus (involuntary eye movement)
• Absent or reduced pupillary reflexes
• Photophobia (sensitivity to light)
• Slow or no visual development

Diagnosis of Leber Congenital Amaurosis

Diagnosis of LCA usually involves a comprehensive eye exam and genetic testing. NxGen Sequencing is a powerful genetic testing technique that can identify the specific genetic mutations that cause LCA. This information can help doctors develop a personalized treatment plan for each patient.

NxGen Sequencing

NxGen Sequencing is a next-generation DNA sequencing technology that can accurately and rapidly sequence the entire human genome. This technique allows for the identification of specific genetic mutations that cause LCA and other genetic disorders. NxGen Sequencing is a non-invasive test that requires only a small sample of blood or tissue.

Test Cost

The cost of the NxGen Sequencing LCA test in India is INR 28,665. This cost includes the cost of the test itself as well as any necessary counseling and interpretation of the results.

Conclusion

NxGen Sequencing is a powerful genetic testing technique that can be used to diagnose Leber Congenital Amaurosis and other genetic disorders. The test cost in India is INR 28,665, and it can provide valuable information that can help doctors develop a personalized treatment plan for each patient.

If you suspect that your child may have LCA or another genetic disorder, it is important to seek medical attention promptly. Your doctor can help you determine if NxGen Sequencing is an appropriate diagnostic tool for your child's specific needs.

At DNA Labs India, we offer a range of genetic testing services, including NxGen Sequencing. Our team of experienced professionals is dedicated to providing accurate and timely results to our clients. Contact us today to learn more about our services and how we can help you.

Leber Congenital Amaurosis (LCA) is an eye disorder that primarily affects the retina. LCA is also associated with other vision problems, photophobia, nystagmus and hyperopia. There are many different types of LCA distinguished by their genetic cause, patterns of vision loss and related eye abnormalities. Mutations in several different genes on different chromosomes are associated with the different types of LCA. This test is useful for the genetic determination of this disorder.