Nijmegen Breakage Syndrome (NBS) is a rare genetic disorder characterized by microcephaly (abnormally small head), a distinct facial appearance, growth retardation, an increased susceptibility to infections, and a higher risk of cancer, particularly lymphoma. This condition is caused by mutations in the NBN gene, which plays a crucial role in DNA repair and the maintenance […]
Dysmorphology Diseases
Symptoms and Testing information for QARS1 Gene Microcephaly Progressive Seizures and Cerebral and Cerebellar Atrophy Genetic Test
At DNA Labs UAE, we are committed to providing comprehensive genetic testing services to help diagnose and manage a variety of genetic conditions. One of the conditions we focus on is related to mutations in the QARS1 gene, which can lead to a complex neurological disorder characterized by microcephaly, progressive seizures, and cerebral and cerebellar […]
Symptoms and Testing information for RTTN Gene Microcephaly Short Stature and Polymicrogyria with Seizures Genetic Test
Understanding the complexities of genetic disorders is crucial for early diagnosis and appropriate management. One such condition that demands attention is associated with mutations in the RTTN gene, leading to a constellation of symptoms including microcephaly, short stature, polymicrogyria, and seizures. DNA Labs UAE is at the forefront of genetic testing, offering a comprehensive genetic […]
Symptoms and Testing information for TUBB2B Gene Microcephaly TUBB2B Related Genetic Test
Microcephaly is a medical condition characterized by a smaller than normal head size, which is often associated with developmental issues and neurological disorders. Among the various genetic factors that contribute to microcephaly, mutations in the TUBB2B gene are known to play a significant role. Understanding the symptoms and genetic basis of TUBB2B-related microcephaly is crucial […]
Symptoms and Testing information for YWHAE Gene Miller Dieker Lissencephaly Syndrome Genetic Test
Symptoms of YWHAE Gene Miller Dieker Lissencephaly Syndrome Genetic Test Miller-Dieker Lissencephaly Syndrome (MDLS) is a rare genetic disorder characterized by a smooth brain surface and a reduction in the number of brain folds and grooves. This condition is associated with mutations in the YWHAE gene, among others, and leads to significant neurological and developmental […]
Symptoms and Testing information for UQCC2 Gene Mitochondrial Complex III Deficiency Nuclear Type 7 Genetic Test
Symptoms of UQCC2 Gene Mitochondrial Complex III Deficiency Nuclear Type 7 Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. One such condition is the UQCC2 Gene Mitochondrial Complex III Deficiency Nuclear Type 7, a rare but serious genetic disorder. Understanding the symptoms of this […]
Symptoms and Testing information for PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test
In the realm of genetic testing and diagnosis, the advancements have been nothing short of revolutionary, providing insights into various genetic disorders that were once a mystery. Among these, mitochondrial myopathies and sideroblastic anemia represent a group of disorders that pose significant challenges to individuals affected by them. A key player in the understanding and […]
Symptoms and Testing information for CEP57 Gene Mosaic Variegated Aneuploidy Syndrome Type 2 Genetic Test
Mosaic Variegated Aneuploidy (MVA) syndrome type 2, caused by mutations in the CEP57 gene, is a rare genetic disorder characterized by a high degree of chromosomal instability. This condition leads to a spectrum of clinical manifestations, making its early diagnosis crucial for management and care. DNA Labs UAE offers a comprehensive genetic test for the […]
Symptoms and Testing information for KNL1 Gene Microcephaly Autosomal Recessive Type 4 Genetic Test
Microcephaly is a medical condition where a baby’s head is significantly smaller than expected, often due to abnormal brain development. Autosomal recessive microcephaly type 4, associated with mutations in the KNL1 gene, is a rare genetic disorder. This condition not only affects head size but can also lead to developmental delays and neurological issues. Understanding […]
Symptoms and Testing information for TRIM37 Gene Mulibrey Nanism Genetic Test
Symptoms of TRIM37 Gene Mulibrey Nanism Genetic Test Mulibrey Nanism, a rare genetic disorder, results from mutations in the TRIM37 gene. This condition affects multiple bodily systems, leading to a wide array of symptoms. Recognizing these symptoms early can be crucial for managing the condition effectively. DNA Labs UAE offers a comprehensive genetic test for […]