Short Description

NGS genetic DNA test detecets for variant and mutation detection in NIPAL4 gene for Ichthyosiform erythroderma, congenital, nonbullous type 1

PreTest Information

Clinical History of Patient who is going for NIPAL4 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 NIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic DNA Test gene NIPAL4

Detail Description

NIPAL4 Gene Ichthyosiform Erythroderma, Congenital, Nonbullous Type 1 NGS Genetic DNA Test

Ichthyosiform erythroderma is a group of skin disorders characterized by dry, scaly, and thickened skin. It is caused by genetic mutations that affect the development of the skin. One type of ichthyosiform erythroderma is congenital nonbullous ichthyosiform erythroderma type 1 (CIE type 1), which is caused by mutations in the NIPAL4 gene.

Symptoms

CIE type 1 is present at birth and affects the entire body. Infants with CIE type 1 have red, scaly, and thickened skin that may crack and bleed. The skin may have a "fish scale" appearance and is often itchy. Other symptoms may include:

• Overgrowth of skin on the palms and soles
• Abnormally shaped fingernails and toenails
• Increased susceptibility to infections
• Hair loss
• Eye problems such as cataracts or inflammation of the eye

Diagnosis

CIE type 1 is diagnosed through a physical examination and genetic testing. A skin biopsy may also be performed to confirm the diagnosis. Genetic testing involves analyzing a sample of DNA to look for mutations in the NIPAL4 gene.

NGS Genetic DNA Test

Next-generation sequencing (NGS) genetic DNA testing is a type of genetic testing that can analyze multiple genes at once. This type of testing can be useful in diagnosing genetic disorders like CIE type 1 that are caused by mutations in specific genes.

Cost

The cost of NGS genetic DNA testing for CIE type 1 in India is approximately INR 20,000.

Conclusion

CIE type 1 is a rare genetic disorder that causes dry, scaly, and thickened skin. It is caused by mutations in the NIPAL4 gene. Genetic testing, including NGS genetic DNA testing, can be used to diagnose CIE type 1. The cost of NGS genetic DNA testing for CIE type 1 in India is approximately INR 20,000.

If you suspect that you or a loved one may have CIE type 1, it is important to speak with a healthcare professional for a proper diagnosis and treatment plan.

For more information about genetic testing for CIE type 1 or other genetic disorders, contact DNA Labs India.