McKusick-Kaufman syndrome (MKKS), also known as Kaufman-McKusick syndrome, is a rare genetic disorder that affects multiple systems of the body. This condition is inherited in an autosomal recessive pattern, meaning that an individual must receive a defective gene from each parent to be affected. The MKKS gene, which plays a crucial role in the development […]
Pneumology Diseases
Symptoms and Testing information for TRPM4 Gene Progressive familial heart block Genetic Test
In the realm of genetic testing, advancements have paved the way for early detection and intervention in numerous hereditary conditions. Among these, the TRPM4 gene-related progressive familial heart block stands out due to its critical impact on cardiac health. DNA Labs UAE is at the forefront of this pioneering field, offering a comprehensive genetic test […]
Symptoms and Testing information for MT-TC Gene MELAS syndrome Genetic Test
At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services to help individuals and families understand their genetic makeup and potential health risks. One of the critical tests we offer is for the MT-TC Gene MELAS Syndrome. This condition, which stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes, is a rare […]
Symptoms and Testing information for SFTPA1 Gene Pulmonary fibrosis idiopathic Genetic Test
In the realm of genetic testing and diagnosis, understanding the intricacies of specific genes and their associated conditions is crucial for both patients and healthcare providers. One such condition that has garnered attention is Idiopathic Pulmonary Fibrosis (IPF), a chronic and ultimately fatal disease characterized by a progressive decline in lung function. The SFTPA1 gene […]
Symptoms and Testing information for MT-TF Gene MELAS syndrome Genetic Test
MELAS syndrome, which stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes, is a complex genetic condition that affects various systems of the body, particularly the nervous system and muscles. It is caused by mutations in mitochondrial DNA, specifically in the MT-TF gene. Understanding the symptoms of MELAS syndrome is crucial for early diagnosis and […]
Symptoms and Testing information for CRHR1 Gene Pulmonary newborn hypertension Genetic Test
Pulmonary hypertension in newborns, also known as neonatal pulmonary hypertension, is a serious and potentially life-threatening condition characterized by high blood pressure in the lungs’ arteries. This condition can significantly impact the oxygenation of the newborn’s body, leading to critical health issues. Recent advancements in genetic research have identified a connection between the CRHR1 gene […]
Symptoms and Testing information for MT-TL1 Gene MELAS syndrome MT-TL1 related Genetic Test
Understanding MT-TL1 Gene MELAS Syndrome Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, commonly known as MELAS syndrome, is a rare genetic disorder that affects multiple systems in the body, including the brain and muscles. It is primarily caused by mutations in the mitochondrial DNA, particularly in the MT-TL1 gene. Understanding the symptoms associated with […]
Symptoms and Testing information for EIF2AK4 Gene Pulmonary Venoocclusive Disease Type 2 Genetic Test
“` Symptoms of EIF2AK4 Gene Pulmonary Venoocclusive Disease Type 2 Genetic Test Pulmonary Venoocclusive Disease Type 2 (PVOD2) is a rare and severe form of pulmonary hypertension that affects the small veins in the lungs. It is caused by mutations in the EIF2AK4 gene. Understanding the symptoms of this condition is crucial for early diagnosis […]
Symptoms and Testing information for MT-TS1 Gene MERRFMELAS overlap syndrome MT-TS1 related Genetic Test
In the realm of genetic diagnostics, understanding the nuances of specific syndromes and their genetic underpinnings is crucial for both patients and healthcare providers. One such complex condition is the MT-TS1 Gene MERRF/MELAS Overlap Syndrome, a rare mitochondrial disorder that presents a unique set of challenges in diagnosis and management. DNA Labs UAE stands at […]
Symptoms and Testing information for MT-TS2 Gene MERRFMELAS overlap syndrome MT-TS2 related Genetic Test
Understanding the complexities of genetic conditions is crucial for accurate diagnosis and management. One such complex condition is the overlap syndrome involving the MT-TS2 gene, known as MERRFMELAS overlap syndrome. This article aims to shed light on the symptoms of this genetic condition and introduce the MT-TS2 related genetic test available at DNA Labs UAE, […]