Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by the narrowing of the carotid artery in the brain and the development of tiny blood vessels that form a “puff of smoke” appearance (moyamoya is Japanese for “puff of smoke”) on angiographic images. This condition can lead to strokes, transient ischemic attacks (TIAs), and cognitive decline due to restricted blood flow to the brain. Achalasia, on the other hand, is a disorder affecting the ability of the esophagus to move food toward the stomach, leading to difficulties in swallowing, regurgitation, and sometimes chest pain. The GUCY1A3 gene has been implicated in a specific form of Moyamoya disease, termed Moyamoya Type 6, when occurring in conjunction with Achalasia, representing a unique and rare genetic condition.
Symptoms of GUCY1A3 Gene Moyamoya Type 6 with Achalasia
The symptoms of Moyamoya Type 6 with Achalasia, linked to mutations in the GUCY1A3 gene, can vary significantly among individuals but often include a combination of neurological and gastrointestinal manifestations. Neurological symptoms are primarily due to reduced blood flow to the brain and may include:
- Headaches
- Seizures
- Weakness, numbness, or paralysis in the face, arm, or leg, typically on one side of the body
- Visual disturbances
- Difficulties in speaking or understanding speech
- Cognitive decline
On the gastrointestinal side, symptoms of Achalasia may include:
- Difficulty swallowing (dysphagia)
- Regurgitation of undigested food
- Chest pain
- Weight loss
- Heartburn
These symptoms can significantly impact the quality of life and require comprehensive management strategies to address both the cerebrovascular and gastrointestinal aspects of the disease.
Genetic Test for GUCY1A3 Gene Moyamoya Type 6 with Achalasia
Understanding the genetic basis of Moyamoya Type 6 with Achalasia is crucial for accurate diagnosis, management, and family planning. DNA Labs UAE offers a specialized genetic test designed to identify mutations in the GUCY1A3 gene, providing valuable information for affected individuals and their families. This test is particularly important for those with a family history of Moyamoya disease, Achalasia, or both, as well as for patients presenting symptoms that could be indicative of this rare condition.
The genetic test involves a simple blood draw or cheek swab, with samples then analyzed in our state-of-the-art laboratory. Our team of genetic experts uses advanced sequencing technologies to detect mutations in the GUCY1A3 gene that are associated with Moyamoya Type 6 with Achalasia. The results of this test can help guide treatment decisions, inform about the risk of recurrence in families, and provide insights into potential interventions to manage symptoms and improve quality of life.
Cost of the Genetic Test
The cost of the GUCY1A3 gene Moyamoya Type 6 with Achalasia genetic test at DNA Labs UAE is 4400 AED. This cost includes the genetic testing procedure, analysis, and a comprehensive report detailing the findings. Our team is committed to providing support and guidance throughout the testing process, ensuring that patients and their families understand the implications of the test results.
For more information about the GUCY1A3 gene Moyamoya Type 6 with Achalasia genetic test, or to schedule a test, please visit our website.
At DNA Labs UAE, we understand the complexities associated with rare genetic conditions like Moyamoya Type 6 with Achalasia. Our dedicated team is here to provide the necessary support, from initial consultation to post-test counseling, helping individuals and families navigate their genetic health with confidence and care.
