Short Description

NGS genetic DNA test detecets for variant and mutation detection in ABCA12 gene for Ichthyosis, lamellar type 2

PreTest Information

Clinical History of Patient who is going for ABCA12 Gene Ichthyosis, lamellar type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCA12 Gene Ichthyosis, lamellar type 2 NGS Genetic DNA Test gene ABCA12

Detail Description

ABCA12 Gene Ichthyosis, Lamellar Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

ABCA12 gene is responsible for the production of a protein that plays a crucial role in the formation of the skin barrier. Mutations in this gene can lead to a rare genetic disorder called ichthyosis, specifically lamellar type 2. This disorder affects the skin's ability to shed dead skin cells, resulting in a buildup of scales and dry, itchy skin. NGS Genetic DNA Test is the most efficient way to diagnose this disorder. Let's dive deeper into the symptoms, diagnosis, and cost of the ABCA12 Gene Ichthyosis, Lamellar Type 2 NGS Genetic DNA Test.

Symptoms of ABCA12 Gene Ichthyosis, Lamellar Type 2

Ichthyosis is a rare genetic disorder that affects the skin's ability to shed dead skin cells. The symptoms of ABCA12 Gene Ichthyosis, Lamellar Type 2 include:

• Dry, scaly skin
• Itching and irritation
• Redness and inflammation
• Cracked skin
• Blisters and ulcers
• Hair loss

These symptoms usually appear at birth or in the first few months of life and can vary in severity from mild to severe.

Diagnosis of ABCA12 Gene Ichthyosis, Lamellar Type 2

The diagnosis of ABCA12 Gene Ichthyosis, Lamellar Type 2 is usually made by a dermatologist or a geneticist. They will perform a physical exam and take a detailed medical history to determine if there is a family history of the disorder. The doctor may also perform a skin biopsy to examine the skin cells under a microscope.

The most efficient way to diagnose ABCA12 Gene Ichthyosis, Lamellar Type 2 is through NGS Genetic DNA Testing. This test analyzes the patient's DNA and checks for mutations in the ABCA12 gene. It is a non-invasive test that requires only a blood sample from the patient. The test is highly accurate, with a sensitivity of up to 99.9%.

Cost of ABCA12 Gene Ichthyosis, Lamellar Type 2 NGS Genetic DNA Test

The cost of the ABCA12 Gene Ichthyosis, Lamellar Type 2 NGS Genetic DNA Test in India is around INR 20,000. The cost may vary depending on the lab and the location. However, it is important to note that the test is covered by most insurance plans in India. Patients should check with their insurance provider to determine if the test is covered under their plan.

Conclusion

ABCA12 Gene Ichthyosis, Lamellar Type 2 is a rare genetic disorder that affects the skin's ability to shed dead skin cells. The symptoms of this disorder can vary in severity from mild to severe. NGS Genetic DNA Testing is the most efficient way to diagnose ABCA12 Gene Ichthyosis, Lamellar Type 2. The cost of the test is around INR 20,000 in India, and it is usually covered by most insurance plans. If you or someone you know is experiencing symptoms of this disorder, it is important to seek medical attention from a dermatologist or a geneticist.