Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP2A2 gene for Acrokeratosis verruciformis

PreTest Information

Clinical History of Patient who is going for ATP2A2 Gene Acrokeratosis verruciformis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP2A2 Gene Acrokeratosis verruciformis NGS Genetic DNA Test gene ATP2A2

Detail Description

ATP2A2 Gene Acrokeratosis verruciformis NGS Genetic DNA Test

Acrokeratosis verruciformis is a rare genetic condition that affects the skin. It is caused by mutations in the ATP2A2 gene. This gene provides instructions for making a protein called SERCA2, which is important for the proper functioning of skin cells. When the ATP2A2 gene is mutated, the skin cells do not function properly and the characteristic symptoms of acrokeratosis verruciformis develop.

Symptoms of acrokeratosis verruciformis usually appear in childhood or early adolescence. The most common symptom is the development of wart-like growths on the hands and feet. These growths can also appear on the knees, elbows, and other areas of the body. The growths can be painful and may bleed or become infected. In some cases, the growths may disappear on their own, but they usually persist for life.

Diagnosis of acrokeratosis verruciformis is usually based on the characteristic appearance of the skin growths. However, genetic testing can be used to confirm the diagnosis and identify the specific mutation in the ATP2A2 gene. DNA Labs India offers ATP2A2 Gene Acrokeratosis verruciformis NGS Genetic DNA Test at a cost of INR 20,000.

The ATP2A2 Gene Acrokeratosis verruciformis NGS Genetic DNA Test is a Next Generation Sequencing (NGS) test that analyzes the ATP2A2 gene for mutations. The test requires a small blood or saliva sample from the patient. The results of the test can confirm the diagnosis of acrokeratosis verruciformis and identify the specific mutation in the ATP2A2 gene. This information can be used to guide treatment and management of the condition.

If you or someone you know is experiencing symptoms of acrokeratosis verruciformis, it is important to seek medical attention. DNA Labs India offers ATP2A2 Gene Acrokeratosis verruciformis NGS Genetic DNA Test at a cost of INR 20,000. Contact us today to learn more about this test and how it can help diagnose and manage this rare genetic condition.

Acrokeratosis verruciformis is a rare genetic skin disorder characterized by the development of flat warts and verrucous (wart-like) lesions on the hands and feet. Mutations in the ATP2A2 gene have been identified as a cause of this condition. The ATP2A2 gene encodes a calcium pump protein called sarco(endo)plasmic reticulum Ca2+-ATPase 2 (SERCA2), which is involved in maintaining calcium ion homeostasis within cells.

The ATP2A2 Gene Acrokeratosis Verruciformis NGS Genetic DNA Test is a diagnostic test that utilizes Next-Generation Sequencing (NGS) technology to analyze the ATP2A2 gene for mutations or genetic variations that are associated with acrokeratosis verruciformis. This genetic test helps identify individuals who have mutations in the ATP2A2 gene, which are contributing to the development of this skin disorder.

During the test, DNA is extracted from a patient's sample, typically obtained from a blood sample or a cheek swab. The DNA is then sequenced to examine the coding regions and other important regions of the ATP2A2 gene. Any mutations or genetic changes that are detected can provide insight into the genetic basis of acrokeratosis verruciformis.

It's important to note that the interpretation of genetic test results requires the expertise of medical professionals, genetic counselors, or specialists who are knowledgeable about acrokeratosis verruciformis and related genetic conditions. They can provide guidance and support to help individuals and families understand the implications of the genetic findings and make informed decisions about their health care.