Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACTA2 gene for Moyamoya disease type 5

PreTest Information

Clinical History of Patient who is going for ACTA2 Gene Moyamoya disease type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACTA2 Gene Moyamoya disease type 5 NGS Genetic DNA Test gene ACTA2

Detail Description

ACTA2 Gene Moyamoya Disease Type 5 NGS Genetic DNA Test Cost INR: 20000

Moyamoya disease is a rare cerebrovascular disease that affects the blood vessels in the brain. It is characterized by the narrowing or blockage of the blood vessels, which reduces blood flow to the brain. This results in an increased risk of stroke and other neurological complications. Moyamoya disease is caused by a variety of genetic and environmental factors, and it can be difficult to diagnose.

ACTA2 Gene and Moyamoya Disease Type 5

ACTA2 is a gene that codes for a protein called smooth muscle alpha-actin. This protein is involved in the contraction and relaxation of smooth muscle cells, which are found in the walls of blood vessels. Mutations in the ACTA2 gene have been linked to several vascular diseases, including Moyamoya disease.

Moyamoya disease can be classified into six types, based on the underlying cause of the disease. Type 5 Moyamoya disease is caused by mutations in the ACTA2 gene. This type of Moyamoya disease is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the disease.

Symptoms of Moyamoya Disease

The symptoms of Moyamoya disease can vary depending on the severity of the disease and the location of the affected blood vessels. Some common symptoms include:

• Headaches
• Seizures
• Weakness or numbness in the arms or legs
• Speech difficulties
• Visual disturbances
• Memory problems
• Difficulty with coordination or balance

Diagnosis of Moyamoya Disease

Diagnosing Moyamoya disease can be challenging, as the symptoms can be similar to those of other neurological conditions. However, there are several tests that can be used to diagnose Moyamoya disease, including:

• Magnetic resonance imaging (MRI)
• Magnetic resonance angiography (MRA)
• Computed tomography (CT) scan
• Cerebral angiogram

If a person is suspected of having Moyamoya disease, genetic testing may also be recommended to identify any mutations in the ACTA2 gene.

NGS Genetic DNA Test Cost INR: 20000

NGS (next-generation sequencing) is a high-throughput DNA sequencing technology that can be used to analyze large amounts of genetic data quickly and accurately. NGS genetic testing can be used to identify mutations in the ACTA2 gene that are associated with Moyamoya disease type 5.

The cost of NGS genetic testing for Moyamoya disease type 5 in India is approximately INR 20000. This cost may vary depending on the specific testing facility and the type of test that is performed.

Conclusion

Moyamoya disease is a rare and potentially serious cerebrovascular disease that can be caused by mutations in the ACTA2 gene. Symptoms of Moyamoya disease can include headaches, seizures, weakness or numbness in the arms or legs, speech difficulties, visual disturbances, memory problems, and difficulty with coordination or balance. Diagnosing Moyamoya disease can be challenging, but there are several tests, including genetic testing, that can be used to identify the condition. NGS genetic testing for Moyamoya disease type 5 in India typically costs around INR 20000.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic testing for Moyamoya disease type 5. Our team of experts can help you understand the testing process and provide you with the information you need to make informed decisions about your health. Contact us today to learn more.