Short Description

NGS genetic DNA test detecets for variant and mutation detection in EFEMP1 gene for Doyne honeycob retinal dystrophy

PreTest Information

Clinical History of Patient who is going for EFEMP1 Gene Doyne honeycob retinal dystrophy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EFEMP1 Gene Doyne honeycob retinal dystrophy NGS Genetic DNA Test gene EFEMP1

Detail Description

EFEMP1 Gene Doyne Honeycomb Retinal Dystrophy NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Doyne honeycomb retinal dystrophy is a rare genetic disorder that affects the retina of the eye. The disorder is caused by mutations in the EFEMP1 gene. The EFEMP1 gene provides instructions for making a protein called fibulin-3, which is found in the retina and other tissues throughout the body.

The fibulin-3 protein is thought to play a role in maintaining the structure and function of the retina. Mutations in the EFEMP1 gene can cause the fibulin-3 protein to be abnormally shaped or to be produced in smaller amounts, leading to the death of cells in the retina and the development of Doyne honeycomb retinal dystrophy.

Symptoms of Doyne Honeycomb Retinal Dystrophy

The symptoms of Doyne honeycomb retinal dystrophy can vary from person to person, but typically include:

• Blurred or distorted vision
• Difficulty seeing in low light
• Loss of peripheral vision
• Appearance of small, yellowish-white deposits in the retina

Diagnosis of Doyne Honeycomb Retinal Dystrophy

The diagnosis of Doyne honeycomb retinal dystrophy is typically made through a comprehensive eye exam, including a dilated exam of the retina. The appearance of small, yellowish-white deposits in the retina is a hallmark of the condition.

Genetic testing can also be used to confirm a diagnosis of Doyne honeycomb retinal dystrophy. Next-generation sequencing (NGS) genetic testing can identify mutations in the EFEMP1 gene that are associated with the disorder.

NGS Genetic DNA Test Cost

The cost of NGS genetic testing for Doyne honeycomb retinal dystrophy in India is typically around INR 20,000. This cost may vary depending on the specific testing laboratory and any additional fees for counseling or interpretation of results.

Conclusion

Doyne honeycomb retinal dystrophy is a rare genetic disorder that can cause vision loss and other visual disturbances. Genetic testing, including NGS, can be used to confirm a diagnosis of the disorder. If you are experiencing symptoms of Doyne honeycomb retinal dystrophy, it is important to speak with your healthcare provider to determine the best course of action.

At DNA Labs India, we offer comprehensive genetic testing services, including NGS testing for Doyne honeycomb retinal dystrophy. Our team of experienced genetic counselors and laboratory professionals can help guide you through the testing process and provide expert interpretation of your results. Contact us today to learn more about our services.