2024

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder that presents a spectrum of physical anomalies and developmental delays. This condition is primarily associated with mutations in the EFTUD2 gene. Understanding the symptoms and seeking early genetic testing can significantly impact the management and prognosis of the disorder. DNA Labs UAE offers a comprehensive […]

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 […]

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 […]

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. […]

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 […]

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 […]

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 […]

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 […]

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 […]

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 […]