The Beta 2 Microglobulin (B2M) tumor marker test is a commonly used diagnostic tool in cancer detection. When there is a suspicion of cancer, this test will be performed to determine the levels of B2M in the blood. By measuring…
The MCCC2 gene, also known by the names 3-methylcrotonyl-coa carboxylase 2 and MCCB, is a gene that encodes the enzyme 3-methylglutaconyl-coa carboxylase, which is responsible for the breakdown of a compound called 3-methylcrotonyl-coa. Variants in this gene can cause a…
Creatine kinase, also known as CK or creatine phosphokinase, is an enzyme found in the muscle cells and brain tissue. It plays a crucial role in the energy metabolism of the body, specifically in the breakdown and regeneration of adenosine…
Neuromyelitis optica (NMO), also known as Devic’s disease, is a rare autoimmune disorder that primarily affects the optic nerves and spinal cord. It is frequently associated with other disorders such as multiple sclerosis, but it has distinct clinical features and…
Chromosome 2 is one of the 23 pairs of chromosomes in humans. It is thought to play a role in a variety of conditions and disorders, including malignancies and neurodevelopmental disorders. Research references related to Chromosome 2 can be found…
The EXT2 gene is a genetic element that is involved in the development of multiple diseases and conditions related to bone growth and development. It is one of the genes associated with hereditary multiple osteochondromas, also known as hereditary multiple…
Combined pituitary hormone deficiency, also known as hypopituitarism, is a rare condition that affects the production of hormones in the pituitary gland. The pituitary gland is located at the base of the brain, in the neck region, and is responsible…
Genetic testing is a powerful tool that provides valuable information about an individual’s health. It involves analyzing a person’s DNA to identify genetic variations that may indicate a predisposition to certain diseases or conditions. These tests can provide insight into…
The CHD3 gene is one of the genes listed in the Blok-Campeau syndrome gene panel. It is related to chromatin remodeling and genetic changes associated with diseases and conditions. The gene provides important scientific information, and free resources and databases…
Marinesco-Sjögren syndrome Marinesco-Sjögren syndrome is a rare genetic condition that affects the eyes, muscles, and other systems of the body. It is also known as Marinesco-Sjögren syndrome which is named after the French pediatrician, Jules Marinesco, and the Swedish ophthalmologist,…