Genetic Test Details
WES (Singleton, Duo, Trio, Quad)
Test Information
- Title
-
WES (Singleton, Duo, Trio, Quad)
- Category
- Genome-wide
- Sub Category
-
Whole Exome Sequencing (WES)
- Gene/Platform/Region List
-
Whole Exome
- Test type
- Genome-wide
- Samples Accepted
- Blood , DNA , Tissue
- Indications
- Diagnosis , Prenatal
- 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
Last Updated: June 23, 2025