Genetic Test Details
22q11.2 Deletion Syndrome
Test Information
- Titre
- 22q11.2 Deletion Syndrome
- Catégorie
- Neurodevelopmental
- Sub Category
- 22q11.21 Deletion Syndrome
- Gene/Platform/Region List
- 22q11.2
- Test type
- Gene Panel
- Samples Accepted
- Blood
- Indications
- Diagnosis , Prenatal
- Test Methodology
- CNV
- Methodology Notes
- MLPA 29 Genes within the 22q11-13 region
- Disease/Condition
- DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome
Dernière Mise à Jour: 18 juin 2025