Short Description

NGS genetic DNA test detecets for variant and mutation detection in POMP gene for Keratosis linearis with ichthyosis congenita and sclerosing keratoderma

PreTest Information

Clinical History of Patient who is going for POMP Gene Keratosis linearis with ichthyosis congenita and sclerosing keratoderma NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POMP Gene Keratosis linearis with ichthyosis congenita and sclerosing keratoderma NGS Genetic DNA Test gene POMP

Detail Description

POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma: Understanding the Condition and the Role of NGS Genetic DNA Test

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) is a rare genetic skin disorder that affects the skin's ability to properly shed dead skin cells. This leads to the build-up of scaly patches of skin that can be painful and itchy. KLICK is caused by mutations in the POMP gene, which codes for a protein that is important in the regulation of cellular processes.

Symptoms of KLICK

KLICK can present with a wide range of symptoms, which can vary in severity from person to person. Some of the common symptoms of KLICK include:

• Scaly patches of skin
• Redness and inflammation
• Cracks and fissures in the skin
• Blisters and pustules
• Thickening of the skin
• Itching and burning

Diagnosis of KLICK

KLICK can be diagnosed through a physical examination of the skin, as well as a review of the patient's medical history and family history. Genetic testing can also be used to confirm the diagnosis of KLICK. Next-generation sequencing (NGS) genetic DNA testing is a powerful tool that can be used to identify mutations in the POMP gene.

NGS Genetic DNA Test for KLICK

NGS genetic DNA testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes. This makes it a powerful tool for the diagnosis of KLICK, as well as other genetic disorders. NGS testing can be performed on a blood or saliva sample, and the results can be obtained within a few weeks.

Cost of NGS Genetic DNA Test for KLICK

The cost of NGS genetic DNA testing for KLICK can vary depending on a number of factors, such as the specific test being performed and the laboratory conducting the test. In general, the cost of NGS testing for KLICK can range from INR 15,000 to INR 25,000.

Conclusion

KLICK is a rare genetic skin disorder that can be difficult to diagnose. NGS genetic DNA testing is a powerful tool that can be used to identify mutations in the POMP gene, which is the underlying cause of KLICK. If you or a loved one is experiencing symptoms of KLICK, it is important to seek medical attention and consider genetic testing to confirm the diagnosis.

At DNA Labs India, we offer NGS genetic DNA testing for KLICK and other genetic disorders at an affordable cost. Contact us today to learn more about our testing services.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for POMP Gene Keratosis linearis with ichthyosis congenita and sclerosing keratoderma NGS Genetic DNA Test