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ATP6V0A2 Gene Wrinkly Skin Syndrome Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The ATP6V0A2 gene wrinkly skin syndrome genetic test is a specialized diagnostic procedure aimed at identifying mutations in the ATP6V0A2 gene, which are associated with the development of wrinkly skin syndrome. Wrinkly skin syndrome is a rare genetic disorder characterized by wrinkled skin, growth delays, and, in some cases, neurological problems. The ATP6V0A2 gene plays a crucial role in the proper functioning of lysosomes and endosomes, cellular compartments involved in the breakdown and recycling of different molecules.

This genetic test involves analyzing the patient’s DNA to detect mutations in the ATP6V0A2 gene that could lead to the syndrome. Early diagnosis through this test can be vital for managing symptoms, understanding the risk of transmission to future generations, and making informed decisions regarding health and care.

The test is available at DNA Labs UAE, a leading facility in genetic diagnostics, offering a comprehensive range of genetic testing services. The cost of the ATP6V0A2 gene wrinkly skin syndrome genetic test is 4400 AED. DNA Labs UAE employs state-of-the-art technology and is staffed by experts in the field of genetic testing, ensuring accurate and reliable results for patients seeking insights into their genetic health.

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  • This test is not intended for medical diagnosis or treatment
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ATP6V0A2 Gene Wrinkly skin syndrome Genetic Test

Cost: AED 4400.0

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Method: NGS Technology

Test Type: Osteology Dermatology Immunology Disorders

Doctor: Dermatologist

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic DNA Test gene ATP6V0A2

Test Details

The ATP6V0A2 gene is associated with a condition called Wrinkly skin syndrome. This syndrome is a rare genetic disorder characterized by wrinkled skin, joint contractures, and other skeletal abnormalities.

NGS (Next Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations that may be responsible for a particular condition. In the case of Wrinkly skin syndrome, NGS genetic testing can be used to detect mutations in the ATP6V0A2 gene that may be causing the disorder.

By analyzing the DNA sequence of the ATP6V0A2 gene, NGS testing can identify any variations or mutations that may disrupt the normal functioning of the gene. This information can be used for diagnosis, genetic counseling, and potentially for developing targeted treatments or interventions for individuals with Wrinkly skin syndrome.

It is important to note that NGS genetic testing is typically performed by medical professionals and genetic specialists who can interpret the results and provide appropriate recommendations based on the findings. If you suspect you or someone you know may have Wrinkly skin syndrome, it is recommended to consult with a healthcare provider or genetic counselor who can guide you through the testing process and provide further information and support.

Test Name ATP6V0A2 Gene Wrinkly skin syndrome Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Osteology Dermatology Immunology Disorders
Doctor Dermatologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic DNA Test gene ATP6V0A2
Test Details

The ATP6V0A2 gene is associated with a condition called Wrinkly skin syndrome. This syndrome is a rare genetic disorder characterized by wrinkled skin, joint contractures, and other skeletal abnormalities.

NGS (Next Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations that may be responsible for a particular condition. In the case of Wrinkly skin syndrome, NGS genetic testing can be used to detect mutations in the ATP6V0A2 gene that may be causing the disorder.

By analyzing the DNA sequence of the ATP6V0A2 gene, NGS testing can identify any variations or mutations that may disrupt the normal functioning of the gene. This information can be used for diagnosis, genetic counseling, and potentially for developing targeted treatments or interventions for individuals with Wrinkly skin syndrome.

It is important to note that NGS genetic testing is typically performed by medical professionals and genetic specialists who can interpret the results and provide appropriate recommendations based on the findings. If you suspect you or someone you know may have Wrinkly skin syndrome, it is recommended to consult with a healthcare provider or genetic counselor who can guide you through the testing process and provide further information and support.