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. |