Understanding the symptoms associated with MFSD8 gene mutations is crucial for early detection and management of Ceroid Lipofuscinosis Neuronal type 7 (CLN7), a rare but severe neurodegenerative disorder. DNA Labs UAE offers comprehensive genetic testing for CLN7, providing invaluable insights for affected families. This article delves into the symptoms indicative of CLN7, emphasizing the importance […]
Metabolic Disorders
Symptoms and Testing information for COQ4 Gene Coenzyme Q10 deficiency type 7 Genetic Test
Coenzyme Q10 (CoQ10) deficiency is a rare genetic condition that affects the body’s ability to produce energy. One specific form of this deficiency is linked to mutations in the COQ4 gene, leading to what is known as Coenzyme Q10 deficiency type 7. This condition can have significant health implications, affecting various systems within the body. […]
Symptoms and Testing information for CLN8 Gene Ceroid lipofuscinosis neuronal type 8 Genetic Test
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 […]
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 COMT Gene Catechol-o-methyltransferase deficiency Genetic Test
The COMT (Catechol-O-Methyltransferase) gene plays a critical role in the metabolic process of catecholamines, such as dopamine, epinephrine, and norepinephrine. These neurotransmitters are essential for various bodily functions, including mood regulation, cognition, and response to stress. A deficiency in the COMT enzyme can lead to a variety of symptoms and conditions, making it crucial for […]