In the realm of genetic diagnostics, the advancement in identifying and understanding rare genetic disorders has significantly improved the quality of life for many affected individuals and their families. One such condition, Limb-girdle muscular dystrophy autosomal recessive type 2E (LGMDR2, formerly known as LGMD2E), caused by mutations in the SGCB gene, exemplifies the critical role of precise genetic testing in disease management and treatment planning. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the SGCB Gene Limb-girdle Muscular Dystrophy Autosomal Recessive Type 2E Genetic Test.
Symptoms of SGCB Gene Limb-girdle Muscular Dystrophy Autosomal Recessive Type 2E
Limb-girdle muscular dystrophy type 2E is a condition that primarily affects the skeletal muscles, leading to progressive muscle weakness and degeneration. The symptoms typically manifest in early childhood and may include:
- Difficulty in walking or running, often characterized by a waddling gait.
- Weakness in the muscles around the hips and shoulders (limb-girdle area), making it challenging to perform tasks such as lifting or climbing stairs.
- Frequent falls due to the weakening of leg muscles.
- Muscle pain and stiffness.
- In some cases, heart muscle can be affected, leading to cardiomyopathy.
- Respiratory difficulties due to weakness in the muscles involved in breathing.
It’s important to note that the severity and progression of symptoms can vary significantly among individuals affected by LGMDR2. Early diagnosis and intervention are crucial in managing the condition and improving the quality of life for those affected.
SGCB Gene Limb-girdle Muscular Dystrophy Autosomal Recessive Type 2E Genetic Test
DNA Labs UAE offers a specialized genetic test for diagnosing LGMDR2, caused by mutations in the SGCB gene. This test is essential for confirming the diagnosis, understanding the disease’s progression, and planning appropriate treatment strategies. The test involves analyzing the DNA extracted from a blood sample, specifically looking for mutations in the SGCB gene that are known to cause the condition.
The cost of the SGCB Gene Limb-girdle Muscular Dystrophy Autosomal Recessive Type 2E Genetic Test at DNA Labs UAE is 4400 AED. This investment in your health provides valuable insights into the genetic basis of the condition, enabling personalized treatment approaches and genetic counseling for affected families.
For more information about the test and to schedule an appointment, please visit DNA Labs UAE.
Understanding the genetic underpinnings of rare diseases like LGMDR2 is a complex process that requires advanced diagnostic tools and expertise. DNA Labs UAE is committed to offering state-of-the-art genetic testing services to help individuals and their families navigate the challenges of genetic disorders. By providing accurate diagnoses, detailed information about the condition, and support through genetic counseling, DNA Labs UAE plays a pivotal role in enhancing the lives of those affected by rare genetic diseases.
