Short Description

NGS genetic DNA test detecets for variant and mutation detection in IFT43 gene for Cranioectodermal dysplasia type 3

PreTest Information

Clinical History of Patient who is going for IFT43 Gene Cranioectodermal dysplasia type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IFT43 Gene Cranioectodermal dysplasia type 3 NGS Genetic DNA Test gene IFT43

Detail Description

Everything You Need to Know About IFT43 Gene Cranioectodermal Dysplasia Type 3 NGS Genetic DNA Test

Genetic disorders can be challenging to diagnose and manage, but advances in technology have made it easier to identify and treat such conditions. One such technology is Next-Generation Sequencing (NGS) Genetic DNA testing, which is used to identify genetic mutations that may cause different diseases.

One of the genetic disorders that can be identified through NGS Genetic DNA testing is Cranioectodermal dysplasia type 3, which is caused by mutations in the IFT43 gene. In this blog, we will discuss IFT43 Gene Cranioectodermal dysplasia type 3 NGS Genetic DNA Test, its symptoms, diagnosis, and cost in India.

What is IFT43 Gene Cranioectodermal dysplasia type 3?

Cranioectodermal dysplasia (CED) is a rare genetic disorder that affects the development of bones, teeth, skin, and other tissues. CED is caused by mutations in different genes, and the symptoms vary depending on the gene affected. Cranioectodermal dysplasia type 3 is caused by mutations in the IFT43 gene, which provides instructions for making a protein that plays a role in the development and maintenance of cilia, which are hair-like structures that protrude from cells and play a crucial role in cell signaling and communication.

People with Cranioectodermal dysplasia type 3 have distinctive facial features, such as a small head, a flat face, widely spaced eyes, and a small jaw. They may also have abnormalities in the skeletal system, such as short fingers and toes, and a curved spine. People with Cranioectodermal dysplasia type 3 may also experience problems with their teeth and skin.

Diagnosis of IFT43 Gene Cranioectodermal dysplasia type 3

Diagnosis of Cranioectodermal dysplasia type 3 is based on the presence of characteristic features and genetic testing. NGS Genetic DNA testing is used to sequence the IFT43 gene and identify any mutations that may be causing the disorder. The test involves taking a blood or saliva sample and analyzing the DNA for mutations in the IFT43 gene.

NGS Genetic DNA testing is a highly accurate method of identifying genetic mutations, and it can provide valuable information for diagnosis, management, and genetic counseling.

Cost of IFT43 Gene Cranioectodermal dysplasia type 3 NGS Genetic DNA Test in India

The cost of IFT43 Gene Cranioectodermal dysplasia type 3 NGS Genetic DNA Test in India is around INR 20,000. The cost may vary depending on the laboratory and the type of testing performed.

Conclusion

NGS Genetic DNA testing has revolutionized the diagnosis and management of genetic disorders such as Cranioectodermal dysplasia type 3. The IFT43 Gene Cranioectodermal dysplasia type 3 NGS Genetic DNA Test can accurately identify mutations in the IFT43 gene, which can help diagnose the disorder and provide valuable information for management and genetic counseling.

If you suspect that you or your child may have Cranioectodermal dysplasia type 3, consult a genetic counselor or a healthcare provider who specializes in genetic disorders. They can guide you through the testing process and provide you with the necessary information and support.

Contact DNA Labs India for IFT43 Gene Cranioectodermal dysplasia type 3 NGS Genetic DNA Test in India.