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Genetic Test Details

Genome Sequencing

Test Information

Titre
Genome Sequencing
Catégorie
Genome-wide
Sub Category
Genome Sequencing
Gene/Platform/Region List

Whole genome

Test type
Genome-wide
Samples Accepted
Blood, DNA
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Short-Read Genome Sequencing
Methodology Notes

GS analysis includes concurrent CNV detection, analysis of mitochondrial DNA variants and screening for select repeat expansion disorders.

Disease/Condition

Suspected genetic condition or syndrome as defined by OH-PGP Genetic Testing Recommendations

Dernière Mise à Jour: 04 juin 2026