Casandra
Casandra Test Code QD25618Version 1 (DRAFT)
Performing Lab
FISH, DiGeorge, Velocardiofacial (VCFS) (14610)
Also known as: CATCH 22, 22q Deletion, Velo-Cardio Facial Syndrome, Shprintzen Syndrome, VCFS DiGeorge FISH
Clinical Use
Order TestUse
This test uses fluorescence in situ hybridization (FISH) to detect deletions of the DiGeorge/Velocardiofacial syndrome critical region on chromosome 22q11.2, such as the TUPLE1/ARSA locus. It is used to diagnose individuals with clinical manifestations consistent with DiGeorge syndrome, Velocardiofacial syndrome, CATCH‑22, or related phenotypes.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Unknown CNV
Copy Number RegionFISH deletion detection • Copy Number Alteration • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
1‑5 mL
Minimum Volume
1 mL
Container
Dark Green (Sodium Heparin) tube
Storage Instructions
Refrigerate‑OK/Ambient‑OK
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