WES (Singleton, Duo, Trio, Quad)
Test Information
- Titre
-
WES (Singleton, Duo, Trio, Quad)
- Catégorie
- Genomes
- Test Name (CMS Title)
-
Whole Exome Sequencing (WES)
- Gene/Platform/Region List
-
Whole Exome
- Test type
- Genome-wide
- Samples Accepted
- Blood, DNA, Tissue
- Indications
- Diagnostics
- Test Methodology
- Real Time PCR, Sequencing
- Methodology Notes
-
qPCR/Affymetrix array (CytoScan) for CNV confirmation, Sanger sequencing for variant confirmation
- Disease/Condition
-
Rare genetic disorder
Dernière Mise à Jour: 09 décembre 2025