Symptoms of POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3 Muscular dystrophy-dystroglycanopathy (type B3), also known as POMGNT1-related dystroglycanopathy, is a rare genetic disorder that affects muscle function and development, as well as the brain. It is caused by mutations in the POMGNT1 gene, which plays a crucial role in the modification of […]
Muscular dystrophies are a group of genetic disorders characterized by progressive muscle weakness and degeneration. Among them, dystroglycanopathy, particularly the limb-girdle type C2 (LGMD2C), caused by mutations in the POMT2 gene, presents unique challenges and symptoms that significantly impact affected individuals’ quality of life. DNA Labs UAE offers comprehensive genetic testing for this condition, providing […]
Symptoms of SDHA Gene Mitochondrial Respiratory Chain Complex II Deficiency Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. One such condition is the deficiency in the mitochondrial respiratory chain complex II, specifically linked to mutations in the SDHA gene. This condition can lead to […]
Muscular dystrophy encompasses a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Among these, Becker Muscular Dystrophy (BMD) is a milder variant of Duchenne Muscular Dystrophy (DMD), with symptoms typically appearing in late childhood to adolescence. Understanding the symptoms and undergoing genetic testing, such as the […]
Understanding the complexities of mitochondrial diseases is crucial in the field of genetics, especially when it comes to disorders affecting the mitochondrial respiratory chain. One such condition, associated with mutations in the TIMM21 gene, highlights the importance of accurate diagnostic processes for effective management and treatment. DNA Labs UAE stands at the forefront of genetic […]
Muscular dystrophy encompasses a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Among these, a rare form is linked to mutations in the LMNA gene, known as LMNA-related congenital muscular dystrophy. DNA Labs UAE offers a comprehensive genetic test for this condition, providing essential information for […]
In the realm of genetic testing, advancements are continuously being made to identify and understand various genetic disorders that can affect individuals from an early age. One such condition that has garnered attention is the deficiency related to the ECHS1 gene, which plays a critical role in the mitochondrial short-chain enoyl-CoA hydratase 1 enzyme’s function. […]
Miyoshi Muscular Dystrophy Type 3 is a rare genetic disorder that affects the muscles, leading to progressive weakness and wasting. This condition is caused by mutations in the ANO5 gene. Understanding the symptoms and undergoing genetic testing can be crucial for diagnosis, treatment, and management. DNA Labs UAE offers a comprehensive genetic test for this […]
In the realm of genetic testing, the advancements have been remarkable, providing insights into numerous inherited conditions that were once shrouded in mystery. One such condition is Miyoshi Myopathy, a type of muscular dystrophy that primarily affects the distal muscles of the legs and arms. At the forefront of genetic testing for this condition is […]
Understanding the nuances of genetic disorders is pivotal in the realm of modern medicine, particularly when it comes to diagnosing and managing rare syndromes. One such complex condition is the PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 (PIGT-MCAHS3). This genetic disorder, though rare, presents a spectrum of symptoms that can significantly impact the quality […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
