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. […]
Neurology Diseases
Symptoms and Testing information for DYSF Gene Limb-girdle muscular dystrophy autosomal recessive type 2B Genetic Test
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 […]
Symptoms and Testing information for XBP1 Gene Major affective disorder 7 Genetic Test
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 […]
Symptoms and Testing information for SGCG Gene Limb-girdle muscular dystrophy autosomal recessive type 2C Genetic Test
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 […]
Symptoms and Testing information for CACNA1S Gene Malignant hyperthermia type 5 Genetic Test
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 […]
Symptoms and Testing information for SGCA Gene Limb-girdle muscular dystrophy autosomal recessive type 2D Genetic Test
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 […]
Symptoms and Testing information for SGCB Gene Limb-girdle muscular dystrophy autosomal recessive type 2E Genetic Test
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 […]
Symptoms and Testing information for TCAP Gene Limb-Girdle Muscular Dystrophy autosomal recessive type 2G Genetic Test
Symptoms of TCAP Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2G Limb-Girdle Muscular Dystrophy (LGMD) represents a diverse group of genetic disorders characterized by progressive weakness and degeneration of the limb-girdle muscles, which include those of the hips and shoulders. Among the various types, LGMD type 2G, caused by mutations in the TCAP gene, is […]
Symptoms and Testing information for TRIM32 Gene Limb-girdle muscular dystrophy autosomal recessive type 2H Genetic Test
Limb-girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. It is characterized by progressive muscle weakness and wasting, primarily affecting the shoulder and pelvic girdle muscles. Among the various subtypes of LGMD, the autosomal recessive type 2H, caused by mutations in the TRIM32 gene, stands out due to its […]
Symptoms and Testing information for FKRP Gene Limb-girdle muscular dystrophy autosomal recessive type 2I Genetic Test
Limb-girdle muscular dystrophy (LGMD) represents a diverse group of genetic disorders characterized by progressive weakness and wasting of the muscles, primarily affecting the shoulder and pelvic girdles. Among the various subtypes of LGMD, autosomal recessive type 2I, caused by mutations in the FKRP (fukutin-related protein) gene, stands out due to its unique genetic basis and […]