Symptoms of CASP10 Gene Autoimmune Lymphoproliferative Syndrome Type 2A Autoimmune Lymphoproliferative Syndrome Type 2A (ALPS Type 2A) is a rare genetic disorder primarily affecting the immune system. It is caused by mutations in the CASP10 gene, which plays a critical role in the regulation of cell death and inflammation. Individuals with this condition often experience […]
Osteology Diseases
Symptoms and Testing information for CASP8 Gene Autoimmune Lymphoproliferative Syndrome Type 2B Genetic Test
Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare genetic disorder that affects the immune system, leading to an increased risk of developing lymphoma and other autoimmune diseases. One specific subtype of this condition, known as ALPS Type 2B, is caused by mutations in the CASP8 gene. Understanding the symptoms associated with this genetic mutation is crucial […]
Symptoms and Testing information for PRKCD Gene Autoimmune Lymphoproliferative Syndrome Type 3 Genetic Test
Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder that affects the immune system, leading to the overproduction of lymphocytes and an increased risk of developing autoimmune disorders and lymphoma. Among the different types of ALPS, Type 3 is specifically associated with mutations in the PRKCD gene. This particular type of ALPS presents unique challenges […]
Symptoms and Testing information for VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 Genetic Test
Understanding the Symptoms of VPS33B Gene Mutation Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) syndrome type 1 is a rare genetic disorder that poses significant health challenges right from birth. This condition is attributed to mutations in the VPS33B gene, which plays a crucial role in cellular processes. Recognizing the symptoms of this disorder early can […]
Symptoms and Testing information for AIRE Gene Autoimmune Polyendocrinopathy Syndrome Type 1 Genetic Test
Autoimmune Polyendocrinopathy Syndrome Type 1, also known as APS-1 or APECED (Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy), is a rare genetic disorder primarily affecting the immune system. This condition is caused by mutations in the AIRE (Autoimmune Regulator) gene, which plays a critical role in the development and function of immune tolerance. Individuals with APS-1 are prone to […]
Symptoms and Testing information for VIPAS39 Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 2 Genetic Test
Arthrogryposis Renal Dysfunction and Cholestasis (ARC) syndrome is a rare genetic disorder that affects various parts of the body. Type 2 ARC syndrome is particularly associated with mutations in the VIPAS39 gene. This condition is characterized by congenital joint contractures (arthrogryposis), kidney (renal) dysfunction, and liver (cholestasis) problems. Understanding the symptoms and undergoing genetic testing […]
Symptoms and Testing information for PSMB8 Gene Autoinflammation Lipodystrophy and Dermatosis Syndrome Genetic Test
At DNA Labs UAE, we understand the complexities and challenges that come with rare genetic disorders. One such condition is the PSMB8 Gene Autoinflammation Lipodystrophy and Dermatosis Syndrome. This disorder is a rare, inherited condition that can significantly impact the quality of life for those affected. Our genetic testing services include a comprehensive analysis for […]
Symptoms and Testing information for WISP3 Gene Arthropathy Progressive Pseudorheumatoid of Childhood Genetic Test
Progressive Pseudorheumatoid Dysplasia (PPD), also known as Progressive Pseudorheumatoid Arthropathy of Childhood, is a rare genetic disorder that primarily affects the joints. It is caused by mutations in the WISP3 gene, which plays a crucial role in cartilage health and development. Unlike juvenile idiopathic arthritis, PPD is not an inflammatory condition, but rather a degenerative […]
Symptoms and Testing information for COL2A1 Gene Avascular Necrosis of the Femoral Head Primary Genetic Test
Avascular necrosis of the femoral head is a condition characterized by the death of bone tissue due to a lack of blood supply. This can lead to severe pain and disability as the condition progresses. The COL2A1 gene plays a significant role in the development of this condition. Understanding the symptoms and the importance of […]
Symptoms and Testing information for FLNB Gene Atelosteogenesis Type 1 Genetic Test
Symptoms of FLNB Gene Atelosteogenesis Type 1 Genetic Test Atelosteogenesis type 1 is a rare genetic disorder that affects the development of bones throughout the body. It is caused by mutations in the FLNB gene, which plays a crucial role in the development and maintenance of the skeletal system. Recognizing the symptoms of this condition […]