Short Description

NGS genetic DNA test detecets for variant and mutation detection in PNPLA1 gene for Ichthyosis congenital, autosomal recessive, PNPLA1 related

PreTest Information

Clinical History of Patient who is going for PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related NGS Genetic DNA Test gene PNPLA1

Detail Description

PNPLA1 Gene Ichthyosis Congenital: Symptoms, Diagnosis and Genetic Testing

Ichthyosis congenital is a rare genetic disorder that affects the skin. It is characterized by dry, scaly, and thickened skin that can be itchy and painful. One form of ichthyosis congenital is caused by mutations in the PNPLA1 gene. This type of ichthyosis is inherited in an autosomal recessive manner, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Symptoms of PNPLA1 Gene Ichthyosis Congenital

The symptoms of PNPLA1 gene ichthyosis congenital can vary from person to person and can range from mild to severe. Some common symptoms of this condition include:

• Dry, scaly skin
• Thickened skin
• Itching and pain
• Cracked skin
• Redness and inflammation
• Difficulty sweating
• Hair loss

Diagnosis of PNPLA1 Gene Ichthyosis Congenital

The diagnosis of PNPLA1 gene ichthyosis congenital is usually based on a physical examination of the skin and a review of the patient's medical history. In some cases, a skin biopsy may be performed to confirm the diagnosis. Genetic testing can also be used to confirm a diagnosis of PNPLA1 gene ichthyosis congenital.

PNPLA1 Related NGS Genetic DNA Test

PNPLA1 related NGS genetic DNA testing is a type of genetic test that can be used to identify mutations in the PNPLA1 gene. This test can be used to confirm a diagnosis of PNPLA1 gene ichthyosis congenital or to determine if a person is a carrier of the condition.

The cost of PNPLA1 related NGS genetic DNA testing in India is approximately INR 20,000.

Conclusion

PNPLA1 gene ichthyosis congenital is a rare genetic disorder that affects the skin. It is inherited in an autosomal recessive manner and can cause dry, scaly, and thickened skin, as well as other symptoms. Diagnosis is usually based on a physical examination of the skin and genetic testing can be used to confirm a diagnosis. PNPLA1 related NGS genetic DNA testing is available in India at a cost of approximately INR 20,000.

If you or someone you know is experiencing symptoms of ichthyosis congenital, it is important to speak with a healthcare professional for proper diagnosis and treatment.