Symptoms of NEK1 Gene Short-Rib Thoracic Dysplasia Type 6 with or Without Polydactyly Short-Rib Thoracic Dysplasia Type 6 (SRTD6), associated with or without polydactyly, is a rare genetic disorder that is part of a group of diseases known as ciliopathies. The NEK1 gene plays a critical role in the development and function of cilia, which […]
Dysmorphology Diseases
Symptoms and Testing information for COL2A1 Gene SED Congenita Genetic Test
Understanding the complexities of genetic conditions is crucial for early diagnosis and management. Among these, the COL2A1 gene mutation, responsible for Spondyloepiphyseal Dysplasia (SED) Congenita, is a significant concern for many. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the COL2A1 Gene SED Congenita Genetic Test, to help identify […]
Symptoms and Testing information for EXT2 Gene Seizures Scoliosis and Macrocephaly Syndrome Genetic Test
Symptoms of EXT2 Gene Seizures Scoliosis and Macrocephaly Syndrome EXT2 Gene Seizures Scoliosis and Macrocephaly Syndrome is a rare genetic disorder that presents a unique set of challenges for those affected and their families. Understanding the symptoms associated with this syndrome is crucial for early diagnosis and management. The EXT2 gene plays a significant role […]
Symptoms and Testing information for HESX1 Gene Septooptic Dysplasia Genetic Test
Septooptic Dysplasia (SOD), also known as De Morsier syndrome, is a rare congenital condition characterized by underdevelopment of the optic nerve, pituitary gland dysfunction, and sometimes absence of the septum pellucidum, a midline part of the brain. This condition can lead to a wide range of symptoms, varying significantly from one individual to another. Genetic […]
Symptoms and Testing information for WNT4 Gene SERKAL Syndrome Genetic Test
Understanding SERKAL Syndrome and the Importance of WNT4 Gene Testing SERKAL syndrome, a rare genetic condition, has garnered attention in the medical community due to its complex nature and the critical role of the WNT4 gene. This syndrome, characterized by a spectrum of symptoms, can significantly impact an individual’s quality of life. Early diagnosis through […]
Symptoms and Testing information for NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation Genetic Test
Severe Combined Immunodeficiency (SCID) represents a group of rare disorders caused by mutations in genes that are essential for the development and function of infection-fighting immune cells. Among these genetic conditions is a particularly complex form caused by mutations in the NHEJ1 gene. This form of SCID is not only marked by a compromised immune […]
Symptoms and Testing information for SETBP1 Gene Schinzel-Giedion Midface Retraction Syndrome Genetic Test
In the realm of genetics, understanding the intricate workings of our DNA can unlock answers to many medical mysteries. One such enigma is the Schinzel-Giedion Midface Retraction Syndrome, a condition linked to mutations in the SETBP1 gene. DNA Labs UAE stands at the forefront of genetic testing, offering comprehensive analysis for those seeking insights into […]
Symptoms and Testing information for SHOX Gene Short Stature Syndrome Genetic Test
In the realm of genetic diagnostics, understanding the intricacies of our genetic makeup has become more accessible and informative, thanks to advancements in genetic testing. One such condition that can now be diagnosed with greater precision is the SHOX Gene Short Stature Syndrome. This genetic disorder, attributed to anomalies within the SHOX gene, is characterized […]
Symptoms and Testing information for EMX2 Gene Schizencephaly Genetic Test
Schizencephaly is a rare developmental disorder characterized by abnormal slits or clefts in the cerebral hemispheres of the brain. One of the genes associated with this condition is the EMX2 gene, which plays a crucial role in brain development. Understanding the symptoms of schizencephaly and the significance of the EMX2 gene schizencephaly genetic test can […]
Symptoms and Testing information for XRCC4 Gene Short Stature Microcephaly and Endocrine Dysfunction Genetic Test
In the realm of genetic diagnostics, understanding the intricate details of our DNA has become crucial for identifying and managing various genetic conditions. One such condition that has garnered attention is linked to mutations in the XRCC4 gene, which can lead to a constellation of symptoms including short stature, microcephaly, and endocrine dysfunction. DNA Labs […]