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. […]
Dysmorphology Diseases
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
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
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
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 […]
Symptoms and Testing information for FGFR1 Gene Kallmann Syndrome Type 2 Genetic Test
Kallmann Syndrome is a rare genetic disorder characterized by the failure to start or fully complete puberty, coupled with an impaired sense of smell, known as anosmia. This condition is a form of hypogonadotropic hypogonadism, where there is a deficiency in the production of the gonadotropin-releasing hormone (GnRH). One of the genes associated with this […]
Symptoms and Testing information for PROK2 Gene Kallmann Syndrome Type 4 Genetic Test
Kallmann Syndrome Type 4 is a rare genetic disorder characterized by a combination of delayed or absent puberty and an impaired sense of smell. This condition is a result of mutations in the PROK2 gene, which plays a crucial role in the development of certain neuronal circuits necessary for the regulation of reproductive hormones and […]
Symptoms and Testing information for DCAF17 Gene Hypogonadism Alopecia Diabetes Mellitus Mental Retardation and Extrapyramidal Syndrome Genetic Test
In the realm of genetic diagnostics, understanding the intricate web of genes and their potential mutations is crucial for the early detection and management of various inherited conditions. Among these, the DCAF17 gene mutation presents a particularly challenging spectrum of symptoms that necessitates comprehensive genetic testing. DNA Labs UAE stands at the forefront of this […]
Symptoms and Testing information for CHD7 Gene Kallmann Syndrome Type 5 Genetic Test
Kallmann Syndrome Type 5 is a rare genetic condition that affects the development of several body systems. It is primarily characterized by the combination of hypogonadotropic hypogonadism (HH) and anosmia or hyposmia (reduced sense of smell). This condition is caused by mutations in the CHD7 gene. Understanding the symptoms and undergoing genetic testing can play […]
Symptoms and Testing information for FGF8 Gene Hypogonadotropic Hypogonadism Type 6 with or without Anosmia Genetic Test
Understanding the nuances of genetic disorders is critical for early diagnosis and treatment. Among these disorders, Hypogonadotropic Hypogonadism Type 6, caused by mutations in the FGF8 gene, stands out due to its unique symptoms and implications. This condition can occur with or without anosmia, adding complexity to its diagnosis and management. Recognizing the symptoms early […]