Short Description

NGS genetic DNA test detecets for variant and mutation detection in KRT2 gene for Ichthyosis, bullous type

PreTest Information

Clinical History of Patient who is going for KRT2 Gene Ichthyosis, bullous type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KRT2 Gene Ichthyosis, bullous type NGS Genetic DNA Test gene KRT2

Detail Description

KRT2 Gene Ichthyosis, Bullous Type: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Ichthyosis is a group of genetic skin disorders that cause dry, scaly skin. The bullous type of ichthyosis is caused by a mutation in the KRT2 gene, which provides instructions for making a protein called keratin 2. This protein helps make up the tough, protective outer layer of the skin.

Symptoms of KRT2 Gene Ichthyosis, Bullous Type

The symptoms of KRT2 gene ichthyosis, bullous type are:

• Thick, scaly skin that is prone to cracking and blistering
• Blisters that can become infected
• Itching and redness
• Difficulty regulating body temperature
• Abnormal nail growth and shedding

These symptoms can be present at birth or develop in early childhood.

Diagnosis of KRT2 Gene Ichthyosis, Bullous Type

Diagnosis of KRT2 gene ichthyosis, bullous type is made through a combination of physical examination and genetic testing. A dermatologist will examine the patient's skin and ask about their medical history and family history. Genetic testing can confirm the presence of the KRT2 gene mutation.

NGS Genetic DNA Test for KRT2 Gene Ichthyosis, Bullous Type Cost in India

NGS (Next-Generation Sequencing) genetic DNA testing for KRT2 gene ichthyosis, bullous type is available in India. The cost of the test is approximately INR 20,000. This test can provide a definitive diagnosis and help guide treatment options.

Conclusion

KRT2 gene ichthyosis, bullous type is a rare genetic skin disorder that causes dry, scaly skin and blistering. Diagnosis is made through a combination of physical examination and genetic testing. NGS genetic DNA testing is available in India and can provide a definitive diagnosis. If you or a loved one are experiencing symptoms of ichthyosis, it is important to seek medical attention and genetic testing to confirm a diagnosis and guide treatment options.