WES (Singleton, Duo, Trio, Quad)

Test Information

Title
WES (Singleton, Duo, Trio, Quad)
Lab
Category
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
Diagnosis
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: November 14, 2025

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