Osteoglophonic dysplasia is a rare genetic disorder that affects bone growth and development. This condition is caused by mutations in the FGFR1 gene, which plays a critical role in the development and maintenance of bone and tissue. Understanding the symptoms of this disorder is crucial for early diagnosis and management. DNA Labs UAE offers a […]
Dysmorphology Diseases
Symptoms and Testing information for RIT1 Gene Noonan Syndrome Type 8 Genetic Test
Symptoms of RIT1 Gene Noonan Syndrome Type 8 Genetic Test Noonan Syndrome is a complex genetic disorder that affects various parts of the body. It is a condition that can cause a wide range of symptoms, varying significantly from one individual to another. Among the genes associated with Noonan Syndrome, the RIT1 gene plays a […]
Symptoms and Testing information for CBL Gene Noonan Syndrome-like Disorder with or without Juvenile Meylomonocytic Leukemia Genetic Test
Understanding Noonan Syndrome-like Disorder with or without Juvenile Myelomonocytic Leukemia Noonan Syndrome-like Disorder with or without Juvenile Myelomonocytic Leukemia (NS/JMML) is a rare genetic condition that shares many characteristics with Noonan Syndrome (NS) but is distinguished by the potential development of juvenile myelomonocytic leukemia. This condition is primarily caused by mutations in the CBL gene. […]
Symptoms and Testing information for GJA1 Gene Oculodentodigital Dysplasia Genetic Test
Oculodentodigital Dysplasia (ODDD) is a rare genetic disorder that affects the development of the eyes, teeth, and fingers. It is caused by mutations in the GJA1 gene, which encodes a protein called connexin43, crucial for cell communication. This disorder presents a wide range of symptoms and severity, making it essential for individuals who suspect they […]
Symptoms and Testing information for STAC3 Gene Native American Myopathy Genetic Test
Native American Myopathy (NAM) is a rare genetic disorder that predominantly affects individuals of Native American descent, although it can occur in other populations. It is caused by mutations in the STAC3 gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for […]
Symptoms and Testing information for NAA10 Gene Ogden Syndrome Genetic Test
Ogden Syndrome, named after the location where it was first identified, is a rare genetic disorder that has captured the attention of medical researchers and healthcare professionals worldwide. This condition, scientifically known as N-acetyltransferase 10 (NAA10) deficiency, affects various bodily systems, leading to a spectrum of clinical manifestations. DNA Labs UAE, a leading institution in […]
Symptoms and Testing information for NALCN Gene Neuroaxonal Neurodegeneration Infantile with Facial Dysmorphism Genetic Test
Understanding the complexities of genetic conditions is crucial for early diagnosis and management. One such rare but significant condition is Neuroaxonal Neurodegeneration Infantile with Facial Dysmorphism (NANIFD), caused by mutations in the NALCN gene. This condition presents with a range of symptoms that can significantly impact the quality of life from a very young age. […]
Symptoms and Testing information for TRPV3 Gene Olmsted Syndrome Genetic Test
Olmsted Syndrome is a rare genetic condition that manifests through a variety of symptoms, significantly impacting the quality of life of those affected. It is primarily characterized by severe palmoplantar keratoderma (thickening of the skin on the palms of the hands and soles of the feet) and periorificial keratotic plaques (skin lesions around body orifices). […]
Symptoms and Testing information for ALK Gene Neuroblastoma Type 3 Susceptibility to Familial Genetic Test
Symptoms of ALK Gene Neuroblastoma Type 3 Susceptibility to Familial Genetic Test Neuroblastoma is a type of cancer that most often affects children and is considered to be one of the most common tumors in infancy. It originates in the sympathetic nervous system, often in the adrenal glands, but can also develop in nerve tissues […]
Symptoms and Testing information for MED12 Gene Opitz-Kaveggia Syndrome Genetic Test
Symptoms of MED12 Gene Opitz-Kaveggia Syndrome Genetic Test The MED12 gene plays a crucial role in the development of the nervous system and other bodily functions. Mutations in the MED12 gene can lead to a rare condition known as Opitz-Kaveggia Syndrome. This condition, also known as FG syndrome, affects many parts of the body and […]