This panel tests for mutations in genes that affect cilia, which are tiny hair-like structures on the surface of cells. Cilia play important roles in many cellular processes, and mutations in genes that affect cilia can cause a variety of disorders known as ciliopathies. These disorders can affect multiple organs, including the eyes, kidneys, and liver, and can cause a range of symptoms such as obesity, developmental delays, and vision loss.
Individuals who have symptoms of a ciliopathy or a family history of the condition. This may include individuals with vision or hearing loss, kidney problems, or developmental delays.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
- Available in less than 24 hours
- Based on Whole Genome Sequencing
- More than 200 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.