Genetic Test Details

WGS (Singleton, Duo, Trio, Quad)

Test Information

Titre
WGS (Singleton, Duo, Trio, Quad)
Catégorie
Genome-wide
Sub Category
Whole Genome Sequencing (WGS)
Gene/Platform/Region List

Whole genome

Test type
Genome-wide
Samples Accepted
Blood, DNA, Tissue
Indications
Diagnostics, 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

Dernière Mise à Jour: 05 septembre 2025