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
- Sequencing, Real Time PCR
- Methodology Notes
-
qPCR/Affymetrix array (CytoScan) for CNV confirmation, Sanger sequencing for variant confirmation
- Disease/Condition
-
Rare genetic disorder
Last Updated: November 26, 2025