Short Description

NGS genetic DNA test detecets for variant and mutation detection in CDH3 gene for Ectodermal dysplasia, ectrodactyly, and macular dystrophy

PreTest Information

Clinical History of Patient who is going for CDH3 Gene Ectodermal dysplasia, ectrodactyly, and macular dystrophy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CDH3 Gene Ectodermal dysplasia, ectrodactyly, and macular dystrophy NGS Genetic DNA Test gene CDH3

Detail Description

Understanding CDH3 Gene Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy NGS Genetic DNA Test

CDH3 Gene Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy are genetic disorders caused by mutations in the CDH3 gene. This gene provides instructions for making a protein called P-cadherin, which is essential for the development and maintenance of skin, hair, nails, and the retina. Mutations in this gene can result in a range of symptoms and severity.

Symptoms

Symptoms of CDH3 Gene Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy can vary greatly depending on the specific mutation and its severity. Some common symptoms include:

• Abnormalities in the skin, hair, and nails
• Missing or deformed fingers or toes (ectrodactyly)
• Visual impairment or blindness due to macular dystrophy
• Dental abnormalities
• Abnormalities in sweat glands

Diagnosis

Diagnosing CDH3 Gene Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy can be challenging as symptoms can vary greatly. However, a genetic test can confirm the presence of a mutation in the CDH3 gene. This test is performed using Next-Generation Sequencing (NGS) technology, which allows for the analysis of multiple genes simultaneously. The test involves collecting a blood or saliva sample from the individual and analyzing their DNA for mutations in the CDH3 gene.

Cost

The cost of CDH3 Gene Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy NGS Genetic DNA Test in India is INR 20000.

Conclusion

CDH3 Gene Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy are genetic disorders caused by mutations in the CDH3 gene. Symptoms can vary greatly, and diagnosis can be challenging. However, a genetic test using NGS technology can confirm the presence of a mutation in the CDH3 gene. The cost of the test in India is INR 20000. Early diagnosis and management can help improve outcomes for individuals affected by these disorders.

If you suspect that you or a loved one may have CDH3 Gene Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy, it is important to consult with a healthcare professional and discuss the possibility of genetic testing.

At DNA Labs India, we offer a range of genetic testing services, including CDH3 Gene Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy NGS Genetic DNA Test, to help individuals and families better understand their genetic health. Contact us today to learn more.