Understanding the genetic underpinnings of various conditions is crucial for accurate diagnosis and effective management. Among these, the ZC4H2 gene plays a significant role in the development of Wieacker-Wolff Syndrome, a rare X-linked recessive disorder. DNA Labs UAE offers a comprehensive genetic test for this condition, priced at 4400 AED, aimed at identifying mutations in […]
Neurology Diseases
Symptoms and Testing information for LAS1L Gene Wilson-Turner Syndrome Genetic Test
Wilson-Turner syndrome is a rare genetic disorder that primarily affects males. It is characterized by intellectual disability, obesity, gynecomastia (enlarged breasts in males), and hypogonadism (decreased function of the gonads). This condition is caused by mutations in the LAS1L gene, which plays a crucial role in the normal development and function of various systems in […]
Symptoms and Testing information for COL6A2 Gene Ullrich Congenital Muscular Dystrophy Genetic Test
Ullrich Congenital Muscular Dystrophy (UCMD) is a rare genetic disorder that affects muscle development and function. It is part of a group of disorders known as congenital muscular dystrophies, which are characterized by muscle weakness and degeneration starting early in life. One of the genes associated with UCMD is COL6A2. Mutations in this gene can […]
Symptoms and Testing information for COL6A3 Gene Ullrich Congenital Muscular Dystrophy Type 1 Genetic Test
Ullrich Congenital Muscular Dystrophy Type 1 (UCMD1) is a rare genetic disorder that affects muscle function and development. This condition is caused by mutations in the COL6A3 gene, which plays a critical role in the strength and stability of muscle and connective tissue. Early diagnosis and understanding of the symptoms can greatly assist in managing […]
Symptoms and Testing information for COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Genetic Test
Symptoms of COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Ullrich Congenital Muscular Dystrophy Type 2, a rare genetic disorder, is caused by mutations in the COL12A1 gene. This condition is characterized by muscle weakness, joint flexibility issues, and developmental delays in motor skills. Recognizing the symptoms early can significantly impact the management and quality […]
Symptoms and Testing information for CSTB Gene Unverricht-Lundborg Disease Genetic Test
Unverricht-Lundborg disease, also known as Baltic myoclonus or progressive myoclonic epilepsy, is a rare inherited disorder that affects the nervous system. It typically begins in childhood or adolescence and is characterized by episodes of involuntary muscle jerking or twitching (myoclonus), seizures, and, in some cases, a decline in cognitive abilities. The disease is caused by […]
Symptoms and Testing information for UROC1 Gene Urocanase Deficiency Genetic Test
Symptoms of UROC1 Gene Urocanase Deficiency Genetic Test The UROC1 gene plays a critical role in the breakdown process of histidine, an essential amino acid necessary for growth and tissue repair. A deficiency in the UROC1 gene, known as Urocanase Deficiency, can lead to a range of health issues due to the accumulation of urocanic […]
Symptoms and Testing information for CRB2 Gene Ventriculomegaly with Cystic Kidney Disease Genetic Test
Ventriculomegaly with cystic kidney disease is a rare genetic disorder that has garnered significant attention within the medical community. This condition is primarily associated with mutations in the CRB2 gene, which plays a crucial role in the development and function of several body systems. DNA Labs UAE is at the forefront of genetic testing for […]
Symptoms and Testing information for TTPA Gene Vitamin E Familial Deficiency Genetic Test
In the realm of genetic testing, advancements have allowed us to identify and manage various inherited conditions with greater precision and understanding than ever before. Among these conditions is Vitamin E deficiency due to mutations in the TTPA gene, a rare, autosomal recessive disorder that can lead to significant neurological problems if not diagnosed and […]
Symptoms and Testing information for SNAI2 Gene Waardenburg Syndrome Type 2D Genetic Test
Waardenburg Syndrome (WS) is a rare genetic disorder that affects the color of the skin, hair, and eyes, and can cause hearing loss. Type 2D of this syndrome, specifically, is linked to mutations in the SNAI2 gene. DNA Labs UAE offers a comprehensive genetic test for those who suspect they might carry this specific mutation, […]