WGS (Singleton, Duo, Trio, Quad)

WGS (Singleton, Duo, Trio, Quad)

Test Information

Titre
WGS (Singleton, Duo, Trio, Quad)
Catégorie
Sub Category
Whole Genome Sequencing (WGS)
Gene/Platform/Region List
Whole genome
Test type
Samples Accepted
Blood, DNA
Indications
Diagnostics, Prenatal
Test Methodology
Sequencing
Methodology Notes
qPCR/Affymetrix array (CytoScan) for CNV confirmation, Sanger sequencing for variant confirmation
Disease/Condition
Rare genetic disorder

Dernière Mise à Jour: 05 septembre 2025