Understanding the complex nature of genetic conditions is crucial for early diagnosis and management. One such condition involves the SOBP gene, which has been linked to mental retardation, anterior maxillary protrusion, and strabismus. DNA Labs UAE offers a comprehensive genetic test for this condition, aiming to provide essential information for affected individuals and their families. […]
Neurology Diseases
Symptoms and Testing information for MLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts Genetic Test
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurological condition characterized by an abnormally large brain (megalencephaly) and deterioration of white matter in the brain, leading to the development of fluid-filled cysts. This disorder is caused by mutations in the MLC1 gene. Understanding the symptoms and undergoing genetic testing for the MLC1 gene is […]
Symptoms and Testing information for TTN Gene Limb-girdle muscular dystrophy autosomal recessive type 2J Genetic Test
Limb-girdle muscular dystrophy (LGMD) is a term used 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 progression and symptoms of […]
Symptoms and Testing information for POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2K Genetic Test
Limb-girdle muscular dystrophy (LGMD) represents a diverse group of genetic disorders characterized by progressive weakness and wasting of the muscles, particularly those around the hips and shoulders (the limb-girdles). Among the various types, LGMD type 2K, caused by mutations in the POMT1 gene, stands out due to its autosomal recessive inheritance pattern. This means that […]
Symptoms and Testing information for ANO5 Gene Limb-girdle muscular dystrophy autosomal recessive type 2L Genetic Test
Limb-girdle muscular dystrophy (LGMD) is a term used to describe 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 […]
Symptoms and Testing information for FKTN Gene Limb-girdle muscular dystrophy autosomal recessive type 2M Genetic Test
DNA Labs UAE is at the forefront of genetic testing and analysis, providing comprehensive services to diagnose and understand various genetic disorders. Among the numerous tests offered, one significant test focuses on the FKTN gene, which is associated with Limb-girdle muscular dystrophy autosomal recessive type 2M (LGMDR2, formerly LGMD2M). This article delves into the symptoms […]
Symptoms and Testing information for POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2N Genetic Test
Limb-girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. It is characterized by progressive weakness and wasting of the muscles around the hips and shoulders (the limb-girdle area). Among the various types of LGMD, the autosomal recessive type 2N, caused by mutations in the POMT1 gene, stands out due […]
Symptoms and Testing information for TRAPPC11 Gene Limb-girdle muscular dystrophy autosomal recessive type 2S Genetic Test
Limb-girdle muscular dystrophy (LGMD) is a diverse group of genetic disorders characterized by progressive weakness and degeneration of the muscles, primarily affecting the shoulder and pelvic girdles. Among the various types, LGMD type 2S, caused by mutations in the TRAPPC11 gene, represents a rare and autosomal recessive form of this condition. DNA Labs UAE is […]
Symptoms and Testing information for NDE1 Gene Lissencephaly type 4 with microcephaly Genetic Test
Lissencephaly, a rare, gene-linked brain formation disorder, presents significant challenges not only to the affected individuals but also to their families and healthcare providers. Among its various types, Lissencephaly type 4 with microcephaly, caused by mutations in the NDE1 gene, is particularly notable. Understanding the symptoms and the availability of genetic testing can be crucial […]
Symptoms and Testing information for POMK Gene Limb-girdle muscular dystrophy autosomal recessive type 12C 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 […]