Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALOXE3 gene for Ichthyosiform erythroderma, congenital, nonbullous type 1

PreTest Information

Clinical History of Patient who is going for ALOXE3 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ALOXE3 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic DNA Test gene ALOXE3

Detail Description

ALOXE3 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic DNA Test

Ichthyosiform erythroderma, congenital, nonbullous type 1 is a rare genetic disorder that affects the skin. It is caused by mutations in the ALOXE3 gene. This gene provides instructions for making an enzyme called lipoxygenase. Lipoxygenase is involved in the production of fats and oils that help to moisturize and protect the skin.

Symptoms of ichthyosiform erythroderma, congenital, nonbullous type 1 include dry, scaly, thickened, and itchy skin. The skin may also be red and inflamed. These symptoms usually appear at birth or during the first few months of life. In severe cases, the skin may crack and bleed, making the affected individual more susceptible to infections.

Diagnosis of ichthyosiform erythroderma, congenital, nonbullous type 1 is usually based on the individual's medical history, physical examination, and skin biopsy. Genetic testing can also be used to confirm the diagnosis.

NGS Genetic DNA Test is a reliable and accurate genetic testing method that can detect mutations in the ALOXE3 gene. This test can help to confirm the diagnosis of ichthyosiform erythroderma, congenital, nonbullous type 1, and can also identify carriers of the condition.

The cost of NGS Genetic DNA Test for ichthyosiform erythroderma, congenital, nonbullous type 1 in India is INR 20,000.

Conclusion

Ichthyosiform erythroderma, congenital, nonbullous type 1 is a rare genetic disorder that affects the skin. Genetic testing, such as the NGS Genetic DNA Test, can help to confirm the diagnosis of this condition. If you or a loved one is experiencing symptoms of ichthyosiform erythroderma, congenital, nonbullous type 1, it is important to seek medical attention and consider genetic testing.