Genetic Test Details | Ontario Health

WES (Singleton, Duo, Trio, Quad)

Test Information

Title: WES (Singleton, Duo, Trio, Quad)
Lab: The Hospital for Sick Children
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

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