Symptoms and Testing information for MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 Genetic Test

Symptoms and Testing information for MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 Genetic Test

Lethal Congenital Contracture Syndrome (LCCS) Type 4 is a rare genetic disorder that poses significant challenges to affected families. This condition is primarily caused by mutations in the MYBPC1 gene, which plays a critical role in muscle development and function. Understanding the symptoms and undergoing genetic testing can provide crucial information for managing this condition. […]

Symptoms and Testing information for ZBTB24 Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 Genetic Test

Symptoms and Testing information for ZBTB24 Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 Genetic Test

Symptoms of ZBTB24 Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 The ZBTB24 gene is critical for the proper development and function of the immune system. Mutations in this gene can lead to a complex disorder known as Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 (ICF2). This condition is characterized by a combination of immune system deficiencies, […]

Symptoms and Testing information for TTC7A Gene Intestinal Atresia Multiple Genetic Test

Symptoms and Testing information for TTC7A Gene Intestinal Atresia Multiple Genetic Test

DNA Labs UAE is at the forefront of genetic testing, offering a wide array of services designed to provide critical insights into various genetic conditions. Among the many tests provided, the TTC7A Gene Intestinal Atresia Multiple Genetic Test stands out for its significance in diagnosing a rare but severe genetic disorder. This test is crucial […]

Symptoms and Testing information for SALL4 Gene IVIC Syndrome Genetic Test

Symptoms and Testing information for SALL4 Gene IVIC Syndrome Genetic Test

Symptoms of SALL4 Gene IVIC Syndrome IVIC Syndrome, a rare genetic disorder, is caused by mutations in the SALL4 gene. This condition presents a spectrum of symptoms that can vary significantly among affected individuals. Understanding these symptoms is crucial for early diagnosis and management of the syndrome. Key Symptoms of IVIC Syndrome The SALL4 gene […]

Symptoms and Testing information for FGFR1 Gene Jackson-Weiss Syndrome Genetic Test

Symptoms and Testing information for FGFR1 Gene Jackson-Weiss Syndrome Genetic Test

Symptoms of FGFR1 Gene Jackson-Weiss Syndrome Genetic Test Jackson-Weiss Syndrome (JWS) is a rare genetic disorder characterized by craniosynostosis, which is the premature fusion of skull bones, foot abnormalities, and in some cases, hand anomalies. This condition is caused by mutations in the FGFR1 gene, which plays a crucial role in cell division, growth, and […]

Symptoms and Testing information for FGFR2 Gene Jackson-Weiss Syndrome Genetic Test

Symptoms and Testing information for FGFR2 Gene Jackson-Weiss Syndrome Genetic Test

Symptoms of FGFR2 Gene Jackson-Weiss Syndrome Genetic Test Jackson-Weiss Syndrome (JWS) is a rare genetic disorder characterized by craniosynostosis, which is the premature fusion of skull bones, leading to an abnormal head shape. It also involves foot abnormalities such as broad and medially deviated great toes, and in some cases, soft tissue and bony fusion. […]

Symptoms and Testing information for RBBP8 Gene Jawad Syndrome Genetic Test

Symptoms and Testing information for RBBP8 Gene Jawad Syndrome Genetic Test

At DNA Labs UAE, we understand the importance of accurate genetic testing for identifying various syndromes and conditions that can impact individuals and families. One such condition is Jawad Syndrome, which is associated with mutations in the RBBP8 gene. This article aims to provide comprehensive information on the symptoms of Jawad Syndrome and details about […]

Symptoms and Testing information for KMT2D Gene Kabuki Syndrome Type 1 Genetic Test

Symptoms and Testing information for KMT2D Gene Kabuki Syndrome Type 1 Genetic Test

Kabuki syndrome is a rare, multisystem disorder characterized by a range of physical and developmental issues. One of the primary genetic causes of Kabuki syndrome type 1 is mutations in the KMT2D gene. Understanding the symptoms and undergoing genetic testing can be crucial for early intervention and management of the condition. DNA Labs UAE offers […]

Symptoms and Testing information for KDM6A Gene Kabuki Syndrome Type 2 Genetic Test

Symptoms and Testing information for KDM6A Gene Kabuki Syndrome Type 2 Genetic Test

Kabuki syndrome is a rare, multi-system disorder characterized by a range of physical and developmental abnormalities. Type 2 Kabuki syndrome, specifically, is associated with mutations in the KDM6A gene. This genetic condition affects many parts of the body, including facial features, growth, skeletal structure, and neurological development. Recognizing the symptoms early can lead to timely […]

Symptoms and Testing information for Paternal UPD Chr. 14 Gene Kagami-Ogata Syndrome Genetic Test

Symptoms and Testing information for Paternal UPD Chr. 14 Gene Kagami-Ogata Syndrome Genetic Test

Understanding the complexities of genetic conditions is crucial in the realm of medical science. One such rare genetic disorder is the Kagami-Ogata Syndrome (KOS), which results from Paternal Uniparental Disomy of Chromosome 14 (patUPD14). Recognizing the symptoms and seeking timely diagnosis can significantly impact the management and quality of life for individuals affected by this […]

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