Genetic Test Details
Constitutional FISH panel: 22q11.21 Deletion Syndrome
Test Information
- Title
- Constitutional FISH panel: 22q11.21 Deletion Syndrome
- Category
- Chromosomal Anomalies
- Sub Category
- FISH: 22q11.21 Deletion Syndrome
- Gene/Platform/Region List
- HIRA (TUPLE1)
- Test type
- Cytogenetic
- Samples Accepted
- Skin Punch , Blood , Products of Conception , Cultured Cells , CVS , Amniocyte
- Indications
- Diagnosis , Prenatal
- Test Methodology
- FISH
- Methodology Notes
- Constitutional FISH
- Disease/Condition
- 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)
Last Updated: June 23, 2025