Marfan Lipodystrophy Syndrome (MLS) is a rare genetic disorder that is characterized by a variety of symptoms affecting multiple organ systems, including the skeletal, ocular, cardiovascular, and integumentary systems. This condition is caused by mutations in the FBN1 gene, which plays a crucial role in the structure and function of connective tissue throughout the body. […]
Symptoms of GDF6 Gene Klippel-Feil Syndrome Type 1 Autosomal Dominant Genetic Test Klippel-Feil Syndrome (KFS) is a rare, congenital disorder characterized by the fusion of any two of the seven cervical vertebrae. It is associated with numerous skeletal and organ anomalies. Among the genes implicated in the condition, mutations in the GDF6 gene are responsible […]
Lethal Congenital Contracture Syndrome (LCCS) Type 4 is a rare genetic disorder that poses significant challenges to affected families. This condition is primarily caused by mutations in the MYBPC1 gene, which plays a critical role in muscle development and function. Understanding the symptoms and undergoing genetic testing can provide crucial information for managing this condition. […]
— Klippel-Feil Syndrome (KFS) is a rare, congenital disorder characterized by the fusion of any two of the seven cervical vertebrae. It is a condition that can lead to a variety of physical and sometimes neurological symptoms due to the abnormal fusion of the spinal bones in the neck. Among the different genetic causes of […]
Symptoms of TP63 Gene Limb-Mammary Syndrome Genetic Test Limb-Mammary Syndrome (LMS) is a rare genetic disorder that affects the development of the limbs, skin, teeth, and mammary glands. This condition is caused by mutations in the TP63 gene, which plays a crucial role in the development and maintenance of tissues and organs throughout the body. […]
Klippel-Feil Syndrome (KFS) is a rare skeletal disorder characterized by the congenital fusion of any two of the seven cervical vertebrae. It is a condition that varies greatly in its presentation, with some individuals experiencing severe symptoms and others only mild discomfort. Type 3 Klippel-Feil Syndrome, specifically linked to mutations in the GDF3 gene, is […]
Lissencephaly, also known as “smooth brain” syndrome, is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). One of the genes associated with this condition is PAFAH1B1, and its mutations can lead to Lissencephaly Type 1. DNA Labs UAE offers a […]
Understanding the genetic underpinnings of various conditions is crucial in the realm of medical science, particularly when it comes to rare syndromes. One such condition is the MYO18B Gene Klippel-Feil Syndrome Type 4, an autosomal dominant disorder characterized by a unique combination of symptoms, including myopathy and facial dysmorphism. DNA Labs UAE is at the […]
Lissencephaly, meaning “smooth brain,” is a rare, genetic brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an unusually small head (microcephaly). Among the various types of lissencephaly, Type 2, also known as Norman-Roberts syndrome, is distinguished by its genetic cause: mutations in the RELN gene. This article delves […]
Kniest Dysplasia is a rare form of skeletal dysplasia, primarily characterized by short stature, enlarged joints, and specific facial features. It stems from mutations in the COL2A1 gene, which plays a crucial role in the development and maintenance of connective tissues throughout the body. Understanding the symptoms and undergoing genetic testing for the COL2A1 gene […]
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.
