Symptoms of GP1BA Gene Bernard Soulier Syndrome Type A1 Genetic Test
Bernard-Soulier Syndrome (BSS) is a rare inherited bleeding disorder, characterized by the deficiency or dysfunction of the platelet glycoprotein complex GP1BA. This complex plays a crucial role in the process of platelet adhesion to the blood vessel wall, which is the first step in the formation of a platelet plug during the blood clotting process. Individuals with Bernard-Soulier Syndrome, specifically Type A1, which is associated with mutations in the GP1BA gene, exhibit a range of symptoms that can vary in severity from mild to severe bleeding episodes.
The primary symptoms associated with Bernard-Soulier Syndrome Type A1 include:
- Easy or excessive bruising: Individuals may notice bruises appearing with minimal or no known trauma.
- Prolonged bleeding: This can occur from minor wounds, surgical procedures, or dental work, and is often significantly longer than normal.
- Spontaneous bleeding: Episodes of bleeding without any apparent cause, which can include nosebleeds, bleeding from the gums, or bleeding in the gastrointestinal or urinary tract.
- Menorrhagia: Women with Bernard-Soulier Syndrome Type A1 may experience heavy and prolonged menstrual bleeding.
- Petechiae: Small red or purple spots on the body, caused by minor bleeding from broken capillaries under the skin.
It is essential for individuals who exhibit these symptoms to undergo genetic testing to confirm the diagnosis of Bernard-Soulier Syndrome Type A1. DNA Labs UAE offers a comprehensive GP1BA Gene Bernard Soulier Syndrome Type A1 Genetic Test, designed to identify mutations in the GP1BA gene that are responsible for the condition. This genetic test is a critical step in the diagnosis and management of the syndrome, enabling tailored treatment and management plans to be developed.
Test Cost
The cost of the GP1BA Gene Bernard Soulier Syndrome Type A1 Genetic Test at DNA Labs UAE is 4400 AED. This investment in health allows for a precise diagnosis, facilitating the appropriate medical interventions and support for individuals with the syndrome. Early diagnosis and treatment can significantly improve the quality of life for those affected by Bernard-Soulier Syndrome Type A1.
For more information on the test and to schedule an appointment, please visit DNA Labs UAE. Our dedicated team of genetic experts is committed to providing accurate, confidential, and comprehensive genetic testing services to help you understand your genetic health.
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