Ceroid lipofuscinosis neuronal type 8, also known as CLN8 disease, is a rare genetic disorder that primarily affects the nervous system. It is part of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are characterized by the accumulation of lipofuscins – fatty substances – in the body’s tissues. These accumulations, particularly in […]
Metabolic Disorders
Symptoms and Testing information for ABCB1 Gene Colchicine resistance Genetic Test
Understanding the ABCB1 Gene and Its Implications on Colchicine Resistance Colchicine is a medication commonly used in the treatment of gout and certain other medical conditions. However, not all patients respond to colchicine treatment effectively. This variability in response can often be attributed to genetic factors, particularly the ABCB1 gene. The ABCB1 gene encodes for […]
Symptoms and Testing information for ABHD5 Gene Chanarin-Dorfman syndrome Genetic Test
Chanarin-Dorfman Syndrome (CDS) is a rare genetic disorder that affects multiple organs and tissues across the body. It is primarily characterized by the accumulation of fats (lipids) in various cells, leading to a wide range of symptoms. The disorder is caused by mutations in the ABHD5 gene, which plays a crucial role in lipid metabolism. […]
Symptoms and Testing information for MT-RNR2 Gene Chloramphenicol resistance MT-RNR2 related Genetic Test
In the rapidly evolving field of genetic testing, DNA Labs UAE stands at the forefront, offering a wide range of genetic tests designed to identify various genetic conditions and predispositions. Among these tests, the MT-RNR2 gene chloramphenicol resistance MT-RNR2 related genetic test is particularly significant due to its implications in antibiotic resistance and the potential […]
Symptoms and Testing information for ABCB11 Gene Cholestasis benign recurrent intrahepatic type 2 Genetic Test
Understanding the symptoms and underlying genetic causes of certain diseases is crucial for effective diagnosis and management. Among these, Cholestasis of benign recurrent intrahepatic type 2, caused by mutations in the ABCB11 gene, is a condition that requires particular attention. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at providing accurate […]
Symptoms and Testing information for ABCB4 Gene Cholestasis intrahepatic of pregnancy type 3 Genetic Test
Cholestasis of pregnancy, also known as intrahepatic cholestasis of pregnancy (ICP), is a liver disorder that occurs in pregnant women. This condition can cause severe itching and increase the risk of fetal distress, preterm birth, and stillbirth. One of the genetic factors associated with this condition is mutations in the ABCB4 gene, which can lead […]
Symptoms and Testing information for ATP8B1 Gene Cholestasis progressive intrahepatic type 1 Genetic Test
Cholestasis progressive intraheptic type 1, also known as Byler disease, is a rare genetic condition that affects the liver. It is caused by mutations in the ATP8B1 gene. This condition is characterized by impaired bile flow (cholestasis), which can lead to liver damage. Understanding the symptoms and undergoing genetic testing can be crucial for early […]
Symptoms and Testing information for ABCB11 Gene Cholestasis progressive intrahepatic type 2 Genetic Test
Cholestasis is a liver condition that slows or stops the flow of bile from the liver. Bile is essential for digesting fats and removing waste products from the body. When bile flow is impaired, it can cause a buildup of bile acids in the liver, leading to liver damage. One specific form of this condition, […]
Symptoms and Testing information for ABCB4 Gene Cholestasis progressive intrahepatic type 3 Genetic Test
The ABCB4 gene plays a crucial role in the body, particularly in the liver. It is responsible for producing a protein that helps move bile acids out of liver cells. When there is a mutation in this gene, it can lead to a condition known as progressive intrahepatic cholestasis type 3. This condition is characterized […]
Symptoms and Testing information for CTSD Gene Ceroid lipofuscinosis neuronal type 10 Genetic Test
Ceroid lipofuscinosis neuronal type 10 (CLN10) is a rare genetic disorder that is part of a group of diseases known as neuronal ceroid lipofuscinoses (NCLs). These disorders affect the nervous system and are characterized by the accumulation of a fatty substance called lipofuscin in the body’s tissues. The CTSD gene, which provides instructions for producing […]