Genetic Test Details
Constitutional FISH panel: 22q11.21 Deletion Syndrome
Test Information
- Titre
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Constitutional FISH panel: 22q11.21 Deletion Syndrome
- Catégorie
- Chromosomal Anomalies
- Sub Category
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FISH: 22q11.21 Deletion Syndrome
- Gene/Platform/Region List
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HIRA (TUPLE1)
- Test type
- Cytogenetic
- Samples Accepted
- Blood, Cultured Cells, Amniocyte, CVS, Products of Conception, Skin Punch
- Indications
- Diagnostics, Prenatal
- Test Methodology
- FISH
- Methodology Notes
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Constitutional FISH
- Disease/Condition
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22q11.21 Deletion Syndrome (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: 05 septembre 2025