Symptoms and Testing information for PEX10 Gene Zellweger Syndrome Genetic Test

Symptoms and Testing information for PEX10 Gene Zellweger Syndrome Genetic Test

— Zellweger Syndrome is a rare, inherited disorder that is part of a group of diseases known as peroxisome biogenesis disorders (PBDs), which are characterized by the reduction or absence of functional peroxisomes in the cells of the body. The PEX10 gene plays a crucial role in the assembly of peroxisomes, and mutations in this […]

Symptoms and Testing information for PEX12 Gene Zellweger Syndrome Genetic Test

Symptoms and Testing information for PEX12 Gene Zellweger Syndrome Genetic Test

Zellweger Syndrome, a rare and inherited condition, falls under a group of disorders known as peroxisome biogenesis disorders (PBDs), which are part of a larger set of diseases known as leukodystrophies. These conditions affect the white matter of the brain and also impact the function of peroxisomes – essential cellular structures that help break down […]

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 […]

Symptoms and Testing information for EDNRB Gene Waardenburg Syndrome-Hirschsprung Disease Genetic Test

Symptoms and Testing information for EDNRB Gene Waardenburg Syndrome-Hirschsprung Disease Genetic Test

Waardenburg Syndrome and Hirschsprung Disease are two genetic disorders that can significantly impact an individual’s quality of life. Both conditions can arise from mutations in the EDNRB gene, and understanding these mutations is crucial for accurate diagnosis and management. DNA Labs UAE offers a comprehensive genetic test designed to identify mutations in the EDNRB gene, […]

Symptoms and Testing information for TTN Gene Tibial Muscular Dystrophy Tardive Genetic Test

Symptoms and Testing information for TTN Gene Tibial Muscular Dystrophy Tardive Genetic Test

Understanding the symptoms of TTN Gene Tibial Muscular Dystrophy Tardive (TMDT) is crucial for early diagnosis and management of the condition. TMDT is a genetic disorder caused by mutations in the TTN gene, which encodes the protein titin. This protein plays a key role in the structure, function, and elasticity of skeletal and cardiac muscles. […]

Symptoms and Testing information for CRPPA Gene Walker-Warburg Syndrome Genetic Test

Symptoms and Testing information for CRPPA Gene Walker-Warburg Syndrome Genetic Test

Walker-Warburg Syndrome (WWS) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. This rare genetic disorder, affecting approximately 1 in every 100,000 live births, is characterized by muscle weakness, developmental delays, and structural brain defects. Understanding the symptoms of WWS is crucial for early diagnosis and intervention. DNA Labs UAE […]

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