Limb-girdle muscular dystrophy (LGMD) is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. The severity, age of onset, and […]
Lissencephaly, which literally means “smooth brain,” is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an unusually small head (microcephaly). Among the genetic variations that can lead to lissencephaly, mutations in the DCX (Doublecortin) gene are significant, especially in causing X-linked lissencephaly and subcortical band […]
Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders characterized by progressive muscle weakness and atrophy, primarily affecting the shoulder and pelvic girdles. Among the various subtypes, LGMD autosomal recessive type 2A, caused by mutations in the CAPN3 gene, is one of the most common. The CAPN3 gene provides instructions for producing a protein […]
Lowe oculocerebrorenal syndrome (OCRL) is a rare genetic condition that primarily affects the eyes, brain, and kidneys. This multisystem disorder, caused by mutations in the OCRL gene, presents a spectrum of symptoms and challenges for those affected. DNA Labs UAE offers a comprehensive genetic test to diagnose this condition, providing essential information for affected families. […]
Limb-girdle muscular dystrophy (LGMD) represents a group of genetically and clinically heterogeneous muscle diseases characterized by progressive weakness and wasting of the limb-girdle muscles. Among the various types of LGMD, autosomal recessive type 2B, caused by mutations in the DYSF gene, stands out due to its unique pathophysiology and clinical manifestations. DNA Labs UAE offers […]
Major Affective Disorder 7, linked to the XBP1 gene, is a condition that has drawn significant attention within the medical community. DNA Labs UAE stands at the forefront of genetic testing, offering a comprehensive genetic test for this disorder. Understanding the symptoms and implications of this condition is crucial for early detection and management. The […]
Limb-girdle muscular dystrophy (LGMD) is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. The severity, age of onset, and […]
Understanding the CACNA1S Gene and Its Link to Malignant Hyperthermia Type 5 Malignant hyperthermia (MH) is a severe reaction to certain anesthesia drugs that can be life-threatening if not treated promptly. Among the genetic factors contributing to MH, mutations in the CACNA1S gene are significant. This gene plays a crucial role in muscle contraction, and […]
Limb-girdle muscular dystrophy (LGMD) represents a diverse group of genetic disorders characterized by progressive weakness and degeneration of the skeletal muscles, particularly those around the hips and shoulders, which are known as the limb-girdle muscles. Among the various subtypes, LGMD autosomal recessive type 2D, caused by mutations in the SGCA gene, is a condition that […]
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 […]
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.
