Primary ciliary dyskinesia.
Material: 1-2 ml of blood EDTA or 1-2 µg of genomic DNA
€1,400.00
Primary ciliary dyskinesia is a genetically determined disease based on a defect in the ultrastructures of the cilia of the mesenteric epithelium, resulting in impaired motor function. The type of inheritance is autosomal recessive, and rarer X-linked forms have been described. PCD belongs to orphan diseases, according to different authors the prevalence is from 1:15000 to 1:60000 newborns.
