At CENTOGENE we believe that our work does not end with identifying the genetic mutation behind a particular disorder. Our scientists offer high quality result interpretation and are always available to consult on your case – before and after testing.
Polycystic kidney disease (PKD) is a late-onset multisystem disorder characterized by bilateral renal cysts and cysts in other organs including the liver, seminal vesicles, pancreas, and arachnoid membrane. Renal manifestations also include hypertension, renal pain, and renal insufficiency, thus approximately 50% of affected individuals develop an end-stage renal disease by the age of 60. Additional symptoms include intracranial aneurysms, mitral valve prolapse and other renal manifestations. Mutations in the PKD1 gene are causative in 85% of individuals affected with polycystic kidney disease, labeling it as the most common potentially lethal single-gene disorder. Overall prevalence at birth is between 1:400 and 1:1,000. Additional genes have been identified to cause this disease, PKD2 (causing almost 15% of all affected cases) and genes BICC1, NOTCH2 and PKHD1, are responsible for rare familial forms of polycystic kidney disorders.
Centogene offers single gene analyses for PKD1 and PKD2, as well as a special NGS panel that covers genes associated with polycystic kidney disease: BICC1, NOTCH2, PKD1, PKD2 and PKHD1. The panel includes deletion/duplication analysis of all listed genes.
To give you a deeper insight, please see our statistical data on PKD analyses at CENTOGENE.
Collagens are structural molecules of connective tissues, and its critical roles have been clearly illustrated by the wide spectrum of diseases caused by the more than 1,000 mutations that have thus far been identified in number of genes. The diseases caused by collagen gene-related mutations include osteogenesis imperfecta, several subtypes of the Ehlers-Danlos syndrome, Alport syndrome, Bethlem myopathy, certain subtypes of Epidermolysis bullosa, and Knobloch syndrome. For example, mutations that cause different forms of Ehlers-Danlos syndrome disrupt the structure, production, or processing of collagen, preventing these molecules from being assembled properly. These defects weaken connective tissues in the skin, bones, and other parts of the body, resulting in the characteristic features of this condition. Centogene offers single gene analyses for 17 different collagen-related genes: COL1A1, COL1A2, COL2A1, COL3A1, COL4A3, COL4A4, COL4A5, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL11A1, COL11A2, COL17A1.