The genetic variants analyzed in this panel are closely related to or, potentially, the cause of major metabolic conditions
Metabolic panel is a comprehensive panel that tests for genetic variants associated with a wide range of metabolic disorders, including amino acid disorders, organic acid disorders, and fatty acid oxidation disorders. Metabolic disorders are caused by mutations in genes involved in metabolism and energy production, 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 metabolic disorders or individuals with symptoms of the conditions, such as developmental delay, feeding difficulties, and metabolic crisis. 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 475 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Maple syrup urine disease
- Gaucher disease
- Niemann-Pick disease
- Tay-Sachs disease
Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.