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Symptoms and Testing information for TWNK Gene Perrault Syndrome Type 5 Genetic Test

Symptoms and Testing information for TWNK Gene Perrault Syndrome Type 5 Genetic Test

Symptoms of TWNK Gene Perrault Syndrome Type 5 Genetic Test Perrault syndrome is a rare genetic disorder that affects both males and females, though the symptoms can be more severe and varied in females. It is characterized by sensorineural hearing loss in both genders and ovarian dysfunction in females. The syndrome has several types, with […]

Symptoms and Testing information for LARS2 Gene Perrault Syndrome Type 4 Genetic Test

Symptoms and Testing information for LARS2 Gene Perrault Syndrome Type 4 Genetic Test

Perrault Syndrome is a rare genetic disorder that can affect both males and females, but its manifestations tend to be more severe in females. It is characterized by sensorineural hearing loss in both sexes and ovarian dysfunction in females, leading to premature menopause. Among the genes associated with Perrault Syndrome, mutations in the LARS2 gene […]

Symptoms and Testing information for HARS2 Gene Perrault Syndrome Type 2 Genetic Test

Symptoms and Testing information for HARS2 Gene Perrault Syndrome Type 2 Genetic Test

Perrault syndrome is a rare genetic disorder that affects both males and females, but its symptoms are more pronounced and severe in females. It is characterized by sensorineural hearing loss in both genders and ovarian dysfunction in females, which can lead to premature ovarian failure. One of the genes associated with this condition is the […]

Symptoms and Testing information for HSD17B4 Gene Perrault Syndrome Genetic Test

Symptoms and Testing information for HSD17B4 Gene Perrault Syndrome Genetic Test

Perrault Syndrome is a rare genetic disorder that affects both males and females, although the symptoms can be more severe and varied in females. This disorder is characterized by sensorineural hearing loss in both genders and ovarian dysfunction in females, leading to premature menopause. The condition is linked to mutations in several genes, including the […]

Symptoms and Testing information for PEX5 Gene Peroxisome Biogenesis Disorder Type 2B Genetic Test

Symptoms and Testing information for PEX5 Gene Peroxisome Biogenesis Disorder Type 2B Genetic Test

Symptoms of PEX5 Gene Peroxisome Biogenesis Disorder Type 2B Genetic Test Peroxisome biogenesis disorders (PBDs) are a group of conditions that affect multiple parts of the body. Among these, the PEX5 gene-related Peroxisome Biogenesis Disorder Type 2B, also known as Rhizomelic Chondrodysplasia Punctata type 1 (RCDP1), is a significant subtype. This genetic condition, inherited in […]

Symptoms and Testing information for PEX1 Gene Peroxisome Biogenesis Disorder Type 1B Genetic Test

Symptoms and Testing information for PEX1 Gene Peroxisome Biogenesis Disorder Type 1B Genetic Test

Understanding the symptoms of PEX1 Gene Peroxisome Biogenesis Disorder Type 1B is crucial for early diagnosis and management of this condition. This disorder, also known as Zellweger spectrum disorder, is a rare genetic condition that can significantly impact an individual’s health. DNA Labs UAE offers a comprehensive genetic test for this disorder, aimed at providing […]

Symptoms and Testing information for PEX11B Gene Peroxisome Biogenesis Disorder 14B Genetic Test

Symptoms and Testing information for PEX11B Gene Peroxisome Biogenesis Disorder 14B Genetic Test

In the realm of genetic testing and diagnosis, the PEX11B Gene Peroxisome Biogenesis Disorder 14B Genetic Test stands out as a critical tool for detecting a rare, inherited condition that affects the peroxisomes. Peroxisomes are essential cellular components that break down very long-chain fatty acids and synthesize plasmalogens, which are important for the normal function […]

Symptoms and Testing information for ARFGEF2 Gene Periventricular Heterotopia with Microcephaly Genetic Test

Symptoms and Testing information for ARFGEF2 Gene Periventricular Heterotopia with Microcephaly Genetic Test

Periventricular heterotopia with microcephaly is a rare genetic disorder that affects brain development. It is caused by mutations in the ARFGEF2 gene. This condition is characterized by the presence of nodules of gray matter located in the wrong place in the brain, due to neurons not migrating properly during development. Additionally, individuals with this condition […]

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