Symptoms and Testing information for ZC4H2 Gene Wieacker-Wolff Syndrome Genetic Test

Symptoms and Testing information for ZC4H2 Gene Wieacker-Wolff Syndrome Genetic Test

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 […]

Symptoms and Testing information for LAS1L Gene Wilson-Turner Syndrome Genetic Test

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 COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Genetic Test

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

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 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 TTPA Gene Vitamin E Familial Deficiency Genetic Test

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 […]

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