The COL6A3 gene is associated with Ullrich Congenital Muscular Dystrophy Type 1, a rare genetic disorder characterized by muscle weakness, joint hypermobility, and skin abnormalities. This condition is part of a group of disorders known as collagenopathies, which are caused by mutations in the genes responsible for the production of collagen VI. The COL6A3 gene, in particular, encodes one of the three alpha chains that form collagen VI, a critical component of the extracellular matrix surrounding muscle cells and other tissues.

DNA Labs UAE offers a genetic test specifically designed to identify mutations in the COL6A3 gene that are linked to Ullrich Congenital Muscular Dystrophy Type 1. This test is a crucial tool for confirming a diagnosis, which can otherwise be challenging due to the variability of symptoms and their overlap with other neuromuscular disorders. Early and accurate diagnosis through genetic testing can guide appropriate management strategies, inform prognosis, and aid in family planning by assessing the risk of passing the condition to offspring.

The cost of the COL6A3 gene test at DNA Labs UAE is 4400 AED. This investment includes the extraction of DNA from a blood sample, the sequencing of the COL6A3 gene to identify any mutations, and a comprehensive report that interprets the results. Given the specialized nature of this test and its importance in the accurate diagnosis of Ullrich Congenital Muscular Dystrophy Type 1, the cost reflects the technical expertise and resources required to conduct the analysis and provide reliable results.