ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome Genetic Test
Genetic testing for Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS) can be conducted through the ACTA2 Gene Genetic Test. This test helps in diagnosing individuals suspected of having MSMDS, a rare genetic disorder caused by mutations in the ACTA2 gene.
Test Details
The ACTA2 gene is responsible for encoding a protein called smooth muscle alpha-actin, which is vital for the normal functioning of smooth muscles in the body. Mutations in this gene can lead to MSMDS, which affects the smooth muscles in various organs and tissues, including blood vessels, gastrointestinal tract, bladder, and lungs.
Symptoms
The symptoms of MSMDS can vary depending on the organs affected. Common symptoms include abnormalities in blood vessels like aneurysms or arterial narrowing, as well as gastrointestinal and bladder dysfunction.
Test Components and Price
The ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome Genetic Test costs AED 3200.0. The test requires a blood sample for analysis.
Report Delivery and Method
After the sample is collected, the report will be delivered within 3 to 4 weeks. The test utilizes Next-Generation Sequencing (NGS) technology, which allows for the simultaneous analysis of multiple genes to detect genetic mutations associated with various disorders, including MSMDS.
Test Type and Doctor
The ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome Genetic Test falls under the category of Cardiovascular Pneumology Disorders. It is recommended to consult a cardiologist for this test.
Test Department
The test is conducted in the Genetics department of the laboratory.
Pre Test Information
Before undergoing the ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome Genetic Test, it is essential to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by MSMDS and the ACTA2 gene.
Importance of the Test
Genetic testing for ACTA2 mutations is crucial for individuals with a family history of MSMDS or those presenting symptoms consistent with the disorder. It can also be used for prenatal testing in families with a known ACTA2 mutation to determine if a fetus is affected. A positive genetic test result for an ACTA2 mutation can guide medical management and treatment decisions, including regular monitoring of blood vessels, medication to manage symptoms, and potential surgical interventions.
Guidance and Support
It is important to undergo genetic testing under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and support throughout the testing process.
| Test Name | ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome Genetic Test |
|---|---|
| Components | |
| Price | 3200.0 AED |
| Sample Condition | Blood |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Cardiovascular Pneumology Disorders |
| Doctor | Cardiologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic DNA Test gene ACTA2 |
| Test Details | The ACTA2 gene is responsible for encoding a protein called smooth muscle alpha-actin, which is essential for the normal functioning of smooth muscles throughout the body. Mutations in the ACTA2 gene can lead to a rare genetic disorder known as Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS). MSMDS is characterized by abnormalities in the smooth muscles of various organs and tissues, including the blood vessels, gastrointestinal tract, bladder, and lungs. Symptoms can vary widely depending on the specific organs affected but may include blood vessel abnormalities, such as aneurysms or narrowing of the arteries, as well as gastrointestinal and bladder dysfunction. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously, allowing for the detection of genetic mutations associated with various disorders, including MSMDS. This type of testing can help identify specific mutations in the ACTA2 gene, providing a definitive diagnosis for individuals suspected of having MSMDS. Genetic testing for ACTA2 mutations can be particularly important for individuals with a family history of the disorder or those presenting with symptoms consistent with MSMDS. It can also be used for prenatal testing in families with a known ACTA2 mutation to determine if a fetus is affected. A positive genetic test result for an ACTA2 mutation can help guide medical management and treatment decisions for individuals with MSMDS. This may include regular monitoring of blood vessels, medication to manage symptoms, and potentially surgical interventions to address specific complications, such as aneurysms. 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 support throughout the testing process. |
