The PRKDC panel is a genetic test used to identify mutations in the PRKDC gene, which is involved in DNA repair processes. Mutations in this gene can lead to severe combined immunodeficiency (SCID), a rare disorder that affects the immune system and makes individuals highly susceptible to infections. The panel tests for genetic variants that are known to affect these processes.
This panel is designed for individuals with a family history of SCID or individuals with symptoms of the condition, such as recurrent infections, chronic diarrhea, or failure to thrive. Genetic testing can confirm a diagnosis, inform treatment and management decisions, and guide family planning. Testing can also 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
- 1 or more 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.