Symptoms and Testing information for FBN2 Gene Contractural Arachnodactyly Congenital Genetic Test

Symptoms and Testing information for FBN2 Gene Contractural Arachnodactyly Congenital Genetic Test

Understanding the intricacies of our genetic makeup has become increasingly important in diagnosing, treating, and managing various genetic disorders. Among these, FBN2 Gene Contractural Arachnodactyly, also known as Beals Syndrome, is a condition that has garnered attention due to its impact on individuals from a young age. DNA Labs UAE offers a comprehensive genetic test […]

Symptoms and Testing information for NIPBL Gene Cornelia de Lange Syndrome Type 1 Genetic Test

Symptoms and Testing information for NIPBL Gene Cornelia de Lange Syndrome Type 1 Genetic Test

Symptoms of NIPBL Gene Cornelia de Lange Syndrome Type 1 Genetic Test Cornelia de Lange Syndrome (CdLS) Type 1 is a rare genetic disorder that affects various parts of the body. It is primarily characterized by delayed growth and development, intellectual disability, limb defects, and distinctive facial features. The NIPBL gene plays a crucial role […]

Symptoms and Testing information for SMC3 Gene Cornelia de Lange Syndrome Type 3 Genetic Test

Symptoms and Testing information for SMC3 Gene Cornelia de Lange Syndrome Type 3 Genetic Test

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that can affect multiple parts of the body. It is characterized by distinctive facial features, growth delays, intellectual disability, and limb defects. Among the genes associated with this condition, mutations in the SMC3 gene have been identified to cause a specific subtype of the syndrome, […]

Symptoms and Testing information for ANKH Gene Chondrocalcinosis Type 2 Genetic Test

Symptoms and Testing information for ANKH Gene Chondrocalcinosis Type 2 Genetic Test

Chondrocalcinosis, also known as calcium pyrophosphate deposition (CPPD) disease, is a rheumatologic condition marked by the accumulation of calcium pyrophosphate dihydrate crystals in the joints and connective tissues. This condition can lead to episodes of painful arthritis, commonly affecting the knees, wrists, and other joints. One specific form of this condition, Chondrocalcinosis Type 2, is […]

Symptoms and Testing information for EBP Gene Chondrodysplasia Punctata X-Linked Dominant Genetic Test

Symptoms and Testing information for EBP Gene Chondrodysplasia Punctata X-Linked Dominant Genetic Test

Understanding the complexities of genetic conditions is crucial for early diagnosis and management. One such condition is Chondrodysplasia Punctata (CDP), specifically the X-Linked Dominant type associated with mutations in the EBP gene. This article delves into the symptoms of this condition, the importance of genetic testing, and details about the EBP Gene Chondrodysplasia Punctata X-Linked […]

Symptoms and Testing information for RFXANK Gene Bare Lymphocyte Syndrome Type 2 Genetic Test

Symptoms and Testing information for RFXANK Gene Bare Lymphocyte Syndrome Type 2 Genetic Test

At DNA Labs UAE, we understand the critical importance of identifying genetic conditions early on to provide the best possible care and interventions for those affected. One such condition that requires attention is Bare Lymphocyte Syndrome Type 2 (BLS2), which is caused by mutations in the RFXANK gene. This article will delve into the symptoms […]

Symptoms and Testing information for ARSE Gene Chondrodysplasia Punctata X-Linked Recessive Genetic Test

Symptoms and Testing information for ARSE Gene Chondrodysplasia Punctata X-Linked Recessive Genetic Test

Chondrodysplasia punctata (CDPX) is a rare genetic disorder that affects the development of bones and cartilage. Among its various forms, the X-linked recessive type, associated with mutations in the ARSE gene, presents unique challenges and symptoms. Understanding these can help individuals and families navigate the complexities of the condition. DNA Labs UAE offers a specialized […]

Symptoms and Testing information for EXT1 Gene Chondrosarcoma Familial Genetic Test

Symptoms and Testing information for EXT1 Gene Chondrosarcoma Familial Genetic Test

Chondrosarcoma is a type of cancer that forms in the bones and joints, primarily affecting the cartilage cells. It is the second most common type of primary bone cancer. While most cases of chondrosarcoma occur sporadically, a small percentage are familial, indicating a genetic predisposition. One of the genes implicated in the familial form of […]

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