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ATP6V0A2 Gene Cutis Laxa Type 2A Autosomal Recessive Genetic Test

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

-21%

The ATP6V0A2 gene cutis laxa type 2A autosomal recessive genetic test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the ATP6V0A2 gene. These mutations are responsible for causing Cutis Laxa type 2A, a rare genetic disorder characterized by loose, sagging skin and, in some cases, additional systemic symptoms affecting various organs. The condition follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder.

The test is crucial for early diagnosis, allowing for appropriate management and intervention strategies to be implemented, potentially improving the quality of life for affected individuals. Priced at 4400 AED, the test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of the specific genetic mutations in the ATP6V0A2 gene.

DNA Labs UAE is equipped with state-of-the-art technology and staffed by genetic experts, ensuring high accuracy and reliability of the test results. This test is not only important for diagnosing affected individuals but also for carrier testing, which can inform family planning decisions for those with a family history of Cutis Laxa type 2A.

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ATP6V0A2 Gene Cutis laxa type 2A autosomal recessive Genetic Test

Components: ATP6V0A2 Gene Cutis laxa type 2A autosomal recessive Genetic Test

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 Cutis laxa type 2A, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP6V0A2 Gene Cutis laxa type 2A, autosomal recessive NGS Genetic DNA Test gene ATP6V0A2

Test Details

ATP6V0A2 gene Cutis laxa type 2A, autosomal recessive NGS Genetic Test is a genetic test that analyzes the ATP6V0A2 gene for mutations associated with Cutis laxa type 2A. Cutis laxa is a rare genetic disorder characterized by loose and sagging skin, giving a premature aging appearance.

This test uses Next-Generation Sequencing (NGS) technology to sequence the ATP6V0A2 gene and identify any variations or mutations that may be present. It is an autosomal recessive test, meaning that both copies of the gene must be mutated for the individual to develop the disorder.

The ATP6V0A2 gene provides instructions for making a protein that is involved in the transport of molecules within cells. Mutations in this gene can disrupt the normal functioning of the protein, leading to the symptoms of Cutis laxa type 2A.

The NGS Genetic Test for ATP6V0A2 gene Cutis laxa type 2A can help in confirming a diagnosis, providing information about the inheritance pattern, and guiding appropriate medical management for affected individuals and their families. It may also be used for carrier testing in individuals with a family history of the disorder.

It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and interpretation of the results.

Test Name ATP6V0A2 Gene Cutis laxa type 2A autosomal recessive 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 Cutis laxa type 2A, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP6V0A2 Gene Cutis laxa type 2A, autosomal recessive NGS Genetic DNA Test gene ATP6V0A2
Test Details

ATP6V0A2 gene Cutis laxa type 2A, autosomal recessive NGS Genetic Test is a genetic test that analyzes the ATP6V0A2 gene for mutations associated with Cutis laxa type 2A. Cutis laxa is a rare genetic disorder characterized by loose and sagging skin, giving a premature aging appearance.

This test uses Next-Generation Sequencing (NGS) technology to sequence the ATP6V0A2 gene and identify any variations or mutations that may be present. It is an autosomal recessive test, meaning that both copies of the gene must be mutated for the individual to develop the disorder.

The ATP6V0A2 gene provides instructions for making a protein that is involved in the transport of molecules within cells. Mutations in this gene can disrupt the normal functioning of the protein, leading to the symptoms of Cutis laxa type 2A.

The NGS Genetic Test for ATP6V0A2 gene Cutis laxa type 2A can help in confirming a diagnosis, providing information about the inheritance pattern, and guiding appropriate medical management for affected individuals and their families. It may also be used for carrier testing in individuals with a family history of the disorder.

It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and interpretation of the results.