Symptoms of GP1BB Gene Bernard Soulier Syndrome Type B Genetic Test
Bernard-Soulier Syndrome (BSS) is a rare inherited bleeding disorder, resulting from defects in the GP1BB gene. This gene plays a critical role in the proper functioning of platelets, which are essential for blood clotting. The Type B variant of this syndrome, specifically associated with mutations in the GP1BB gene, leads to a severe reduction in platelet adhesion, making individuals prone to excessive bleeding. Recognizing the symptoms of this condition is crucial for early diagnosis and management. At DNA Labs UAE, we offer a comprehensive genetic test for the GP1BB gene Bernard-Soulier Syndrome Type B, priced at 4400 AED.
Key Symptoms and Signs
Individuals with Bernard-Soulier Syndrome Type B may exhibit a range of symptoms, varying in severity. It is important to be aware of these signs to seek timely medical advice and testing.
- Easy and Excessive Bleeding: This is the hallmark of BSS. Patients may experience prolonged bleeding from minor cuts or injuries. Bleeding gums and frequent nosebleeds are also common.
- Menorrhagia: Women with BSS may suffer from heavy menstrual bleeding, which can lead to anemia over time.
- Petechiae and Bruising: Small red spots on the skin, known as petechiae, and unusual bruising can occur even without injury, due to the impaired function of platelets.
- Bleeding in Joints: In severe cases, bleeding may occur in joints, causing pain and swelling.
It is imperative for individuals exhibiting these symptoms, especially if there is a family history of bleeding disorders, to consider genetic testing. The GP1BB Gene Bernard-Soulier Syndrome Type B Genetic Test offered by DNA Labs UAE provides a definitive diagnosis, enabling appropriate management and treatment strategies to be employed.
Understanding the Genetic Test
The genetic test for Bernard-Soulier Syndrome Type B involves analyzing the DNA for mutations in the GP1BB gene. It is a straightforward process that requires a blood sample. The test not only confirms the diagnosis but also helps in identifying carriers within the family who might be at risk of passing the condition to their offspring.
At DNA Labs UAE, the cost of the GP1BB Gene Bernard-Soulier Syndrome Type B Genetic Test is 4400 AED. While the cost might seem significant, the value of a precise diagnosis cannot be overstated. It paves the way for targeted treatments and informs family planning decisions.
Why Choose DNA Labs UAE?
Choosing the right laboratory for genetic testing is crucial. DNA Labs UAE is a leading provider of genetic testing services in the region, with a commitment to accuracy, confidentiality, and support. Our state-of-the-art facilities and experienced genetic counselors ensure that you receive comprehensive care throughout the testing process.
For more information on the GP1BB Gene Bernard-Soulier Syndrome Type B Genetic Test and to book your appointment, please visit our website at https://dnalabsuae.com/tests/gp1bb-gene-bernard-soulier-syndrome-type-b-genetic-test/.
Early diagnosis and management are key to improving the quality of life for individuals with Bernard-Soulier Syndrome. If you or a loved one are experiencing symptoms associated with this condition, consider reaching out to DNA Labs UAE for a consultation. With the right support and treatment, managing BSS is possible, allowing individuals to lead full and active lives.