Short Description

NGS genetic DNA test detecets for variant and mutation detection in TGM1 gene for Ichthyosis, congenital, autosomal recessive type 1

PreTest Information

Clinical History of Patient who is going for TGM1 Gene Ichthyosis, congenital, autosomal recessive type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TGM1 Gene Ichthyosis, congenital, autosomal recessive type 1 NGS Genetic DNA Test gene TGM1

Detail Description

TGM1 Gene Ichthyosis: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Ichthyosis is a group of inherited skin disorders that lead to dry, scaly skin. One of the types of ichthyosis is congenital ichthyosis, which is present at birth. The most common form of congenital ichthyosis is autosomal recessive type 1, caused by mutations in the TGM1 gene. In this blog, we will discuss the symptoms, diagnosis, and cost of NGS genetic DNA testing for TGM1 gene ichthyosis in India.

Symptoms of TGM1 Gene Ichthyosis

The symptoms of TGM1 gene ichthyosis are evident at birth or in the first few weeks of life. The skin is dry, thick, and scaly, resembling fish scales. It can cover the entire body or be localized to certain areas. The scales can be white, gray, brown, or black. The skin can also be red and inflamed, and there may be blisters or cracks. The skin's appearance can improve with age but remains a lifelong condition.

The dry skin can cause itching, which can lead to infection if scratched. The skin's barrier function is compromised, making it more susceptible to bacterial and fungal infections. The eyes and ears can also be affected, with thick scales and inflammation.

Diagnosis of TGM1 Gene Ichthyosis

The diagnosis of TGM1 gene ichthyosis is based on clinical examination and genetic testing. A dermatologist can examine the skin and take a family history to determine if there is a genetic component to the condition. Genetic testing can confirm the presence of mutations in the TGM1 gene. This testing can be done through NGS genetic DNA testing.

NGS Genetic DNA Test Cost for TGM1 Gene Ichthyosis

The cost of NGS genetic DNA testing for TGM1 gene ichthyosis in India is around INR 20,000. This test can identify mutations in the TGM1 gene, which can confirm the diagnosis of TGM1 gene ichthyosis. This information can help guide treatment and management of the condition.

Conclusion

TGM1 gene ichthyosis is a rare, inherited skin disorder that leads to dry, scaly skin. The condition can be diagnosed through clinical examination and genetic testing, including NGS genetic DNA testing. The cost of NGS genetic DNA testing for TGM1 gene ichthyosis in India is around INR 20,000. Early diagnosis and management of the condition can improve quality of life and prevent complications.

If you or someone you know is experiencing symptoms of TGM1 gene ichthyosis, it is important to consult with a dermatologist and consider genetic testing.

For more information on genetic testing and DNA labs in India, visit DNA Labs India.