Osteopetrosis is a rare disease that causes bones to grow abnormally and become excessively dense. When bones become overly dense, they are brittle and can break easily. Also, bones can be misshapen and large, causing other problems in the body.
Osteopetrosis is a group of rare genetic disorders that affect the bones and cause abnormal bone growth and density. Osteopetrosis is caused by mutations in genes involved in the development and function of bone cells, and this panel tests for genetic variants that are known to affect these processes.
This panel is designed for individuals with a family history of osteopetrosis or individuals with symptoms of the condition, such as bone pain, fractures, and dental abnormalities. Genetic testing can confirm a diagnosis, provide information on disease severity and progression, and inform treatment and management decisions. Testing can also inform family planning decisions and provide reassurance for unaffected family members.
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 10 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.