Short Description

NGS genetic DNA test detecets for variant and mutation detection in KRT6B gene for Pachyonychia congenita type 4

PreTest Information

Clinical History of Patient who is going for KRT6B Gene Pachyonychia congenita type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KRT6B Gene Pachyonychia congenita type 4 NGS Genetic DNA Test gene KRT6B

Detail Description

KRT6B Gene Pachyonychia congenita type 4 NGS Genetic DNA Test

Are you or someone you know experiencing symptoms such as thickened nails, blistering, and calluses on the hands and feet? These symptoms could be indicative of Pachyonychia congenita, a rare genetic disorder that affects the development of skin, nails, and hair.

There are five types of Pachyonychia congenita, each caused by a different genetic mutation. Type 4 is caused by a mutation in the KRT6B gene, which provides instructions for making a protein called keratin 6b.

Symptoms of Pachyonychia congenita type 4

In addition to thickened nails, blistering, and calluses, individuals with Pachyonychia congenita type 4 may experience:

• Painful cysts on the soles of the feet or palms of the hands
• Dental problems
• Difficulty walking
• Hoarseness or voice changes
• Difficulty swallowing

Diagnosis of Pachyonychia congenita type 4

A diagnosis of Pachyonychia congenita type 4 can be made through a genetic test. Specifically, next-generation sequencing (NGS) can be used to identify mutations in the KRT6B gene.

NGS is a powerful tool that allows for the simultaneous analysis of multiple genes and can provide a comprehensive evaluation of an individual's genetic makeup. This test can be done using a blood or saliva sample.

Cost of the KRT6B Gene Pachyonychia congenita type 4 NGS Genetic DNA Test

The cost of the KRT6B Gene Pachyonychia congenita type 4 NGS Genetic DNA Test in India is approximately INR 20,000. It is important to note that the cost may vary depending on the testing facility and any additional tests that may be recommended by a healthcare provider.

Conclusion

Pachyonychia congenita type 4 is a rare genetic disorder that can have a significant impact on an individual's quality of life. If you or someone you know is experiencing symptoms of this condition, it is important to speak with a healthcare provider about the possibility of genetic testing. The KRT6B Gene Pachyonychia congenita type 4 NGS Genetic DNA Test can provide valuable information that can help with diagnosis, treatment, and management of this condition.

At DNA Labs India, we offer a wide range of genetic testing services, including the KRT6B Gene Pachyonychia congenita type 4 NGS Genetic DNA Test. Our team of experts is committed to providing accurate and reliable testing services that can help individuals make informed decisions about their health. Contact us today to learn more.