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 […]
Dysmorphology Diseases
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 […]
Symptoms and Testing information for ASPM Gene Microcephaly Autosomal Recessive Type 5 Genetic Test
Symptoms of ASPM Gene Microcephaly Autosomal Recessive Type 5 Microcephaly is a medical condition characterized by a smaller than normal head size, which is usually a result of abnormal brain development. Autosomal Recessive Primary Microcephaly (MCPH) is a rare genetic disorder, and Type 5, caused by mutations in the ASPM gene, is one of its […]
Symptoms and Testing information for PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 Genetic Test
Symptoms of PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 (MCAHS1) is a rare genetic disorder caused by mutations in the PIGN gene. This condition is characterized by a wide range of symptoms that can vary significantly among affected individuals. However, some common features have been identified, which include […]
Symptoms and Testing information for CENPJ Gene Microcephaly Autosomal Recessive Type 6 Genetic Test
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a wide range of services aimed at providing precise, actionable insights into your genetic health. One of the critical tests provided by DNA Labs UAE is the CENPJ Gene Microcephaly Autosomal Recessive Type 6 Genetic Test. This test is crucial for families […]