The genetic variants analyzed in this panel are closely related to or, potentially, the cause of major pediatric conditions
Pediatric panel is a comprehensive panel that tests for genetic variants associated with a wide range of pediatric disorders, including developmental delays, intellectual disability, and congenital anomalies. Pediatric disorders are caused by mutations in genes involved in the development and function of various organ systems, and this panel tests for genetic variants that are known to affect these processes.
This panel is designed for children with developmental delays, intellectual disability, or congenital anomalies or children with a family history of these conditions. 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 600 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Hyperinsulinemic Hypoglycemia, Familial
- Ciliary Dyskinesia
- Chediak-Higashi Syndrome
Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.