Understanding the nuances of genetic disorders is pivotal in the realm of modern medicine, and the MYH9 Gene Epstein Syndrome is one such condition that demands attention. This syndrome is a result of mutations in the MYH9 gene, which plays a crucial role in the formation and function of platelets and white blood cells. Recognizing […]
Nephrology Diseases
Symptoms and Testing information for BSND Gene Bartter Syndrome Type 4a Genetic Test
Bartter Syndrome is a rare inherited renal disorder that affects the body’s potassium, sodium, chloride, and other essential electrolytes balance. Among its several types, Type 4a, caused by mutations in the BSND gene, is particularly noteworthy due to its association with sensorineural deafness along with the renal electrolyte imbalance. Understanding the symptoms and undergoing timely […]
Symptoms and Testing information for ESR1 Gene Estrogen Resistance Genetic Test
Symptoms of ESR1 Gene Estrogen Resistance Genetic Test The ESR1 gene plays a pivotal role in mediating the effects of estrogen, a crucial hormone in the development and function of both female and male reproductive systems. Mutations in the ESR1 gene can lead to estrogen resistance, a rare condition that can have significant implications on […]
Symptoms and Testing information for CLCNKA Gene Bartter Syndrome Type 4b Genetic Test
Bartter Syndrome is a rare inherited disorder that affects the kidneys. It is characterized by low levels of potassium in the blood, which can lead to a variety of health issues. One of the subtypes of this condition is Bartter Syndrome Type 4b, which is specifically linked to mutations in the CLCNKA gene. Understanding the […]
Symptoms and Testing information for F11 Gene Factor XI Deficiency Genetic Test
At DNA Labs UAE, we are committed to providing our clients with comprehensive genetic testing services to identify various conditions, including the F11 Gene Factor XI Deficiency. This particular test is crucial for individuals who might be at risk of this genetic disorder, which can significantly impact their health and quality of life. Understanding the […]
Symptoms and Testing information for IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test
Understanding the complexities of genetic conditions is crucial for early diagnosis and management. Among these, the IARS2 gene-related syndrome is a rare but significant disorder that encompasses a spectrum of symptoms, including cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. DNA Labs UAE offers a comprehensive genetic test for this condition, […]
Symptoms and Testing information for F12 Gene Factor XII Deficiency Genetic Test
— Understanding the Symptoms of F12 Gene Factor XII Deficiency and the Importance of Genetic Testing Factor XII deficiency, also known as Hageman factor deficiency, is a rare genetic disorder that affects the blood’s ability to clot. This condition is caused by mutations in the F12 gene, which plays a crucial role in the coagulation […]
Symptoms and Testing information for NR1H4 Gene Cholestasis Infantile NR1H4 Related Genetic Test
— Cholestasis is a liver condition that impairs the flow of bile from the liver to the intestines, leading to its accumulation in the liver. This can cause severe liver damage if not diagnosed and treated early. One of the genetic causes of infantile cholestasis is mutations in the NR1H4 gene. Understanding the symptoms and […]
Symptoms and Testing information for UGT1A1 Gene Crigler-Najjar Syndrome Type 1 Genetic Test
Crigler-Najjar syndrome type 1 is a rare genetic disorder that affects the metabolism of bilirubin, a yellow compound that is formed by the breakdown of red blood cells. This condition is caused by mutations in the UGT1A1 gene, which leads to a severe deficiency of the enzyme responsible for converting bilirubin into a form that […]
Symptoms and Testing information for UGT1A1 Gene Crigler-Najjar Syndrome Type 2 Genetic Test
Understanding the UGT1A1 Gene and Crigler-Najjar Syndrome Type 2 The UGT1A1 gene plays a critical role in the body, primarily responsible for the process of glucuronidation, an essential phase of bilirubin detoxification. Bilirubin, a byproduct of red blood cell breakdown, requires proper processing to be eliminated from the body safely. Mutations in the UGT1A1 gene […]