RASopathies are a group of genetic conditions that affect multiple systems in the body, including the heart, skin, and bones. This panel analyzes genes associated with the condition, allowing for early detection and personalized treatment options for patients. The test can benefit individuals with symptoms such as skin abnormalities, heart defects, or intellectual disability, as well as those with a family history of the condition. Early diagnosis can help prevent complications and improve patient outcomes.
This panel is recommended for individuals with symptoms such as skin abnormalities, heart defects, or intellectual disability, as well as those with a family history of RASopathies. The test can provide patients and their families with information that can help guide their healthcare decisions, including personalized treatment options and the potential for early detection. Early diagnosis can help prevent complications and improve patient outcomes.
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 24 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Noonan syndrome
- Cardiofaciocutaneous syndrome
- Neurofibromatosis type 1
- Legius syndrome
- Noonan-like syndrome with loose anagen hair
- Costello syndrome
- Noonan syndrome with multiple lentigines
- Noonan-like syndrome
Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.