ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome Genetic Test

The ACTA2 gene is responsible for encoding a protein called smooth muscle alpha-actin, which is involved in the contraction and relaxation of smooth muscle cells. Mutations in the ACTA2 gene can lead to a rare genetic disorder known as Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS).

NGS (Next-Generation Sequencing) is a genetic testing technique that can be used to analyze multiple genes simultaneously. In the context of MSMDS, NGS can be used to identify mutations or variants in the ACTA2 gene that may be causing the disorder.

The genetic test for ACTA2 gene mutations using NGS involves obtaining a DNA sample, typically through a blood sample or cheek swab, from the individual suspected to have MSMDS. The DNA is then sequenced using NGS technology, which allows for the identification of any genetic variations or mutations in the ACTA2 gene.

Identifying mutations in the ACTA2 gene can help confirm a diagnosis of MSMDS and provide valuable information for the management and treatment of the condition. It can also be used for genetic counseling and to determine the risk of passing the condition onto future generations.

Test Details:

• Test Name: ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome Genetic Test
• Components: NGS Technology
• Price: 4400.0 AED
• Sample Condition: Blood
• Report Delivery: 3 to 4 Weeks
• Test Type: Neurological Disorders
• Doctor: Neurologist
• 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.