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Test Code SQ 22Q, EPIC LAB5193 DiGeorge/Velo-Cardio-Facial/Shprintzen/Conotruncal Anomaly Syndrome, Deletion 22q11.2, TUPLE1, FISH, for Genetic Diagnosis


Fluorescence in situ hybridization (FISH) performed on metaphase cells using DNA probes (LSI DiGeorge/velo-cardio-facial/Shprintzen Region [Tuple1] microdeletion probe/ARSA control; Vysis, Inc) specific for 22q11.2 (TUPLE1, D22S553), simultaneously with a probe for 22q13.3 (ARSA) in the long arm of chromosome 22 as a control.

Includes FISH analysis of 10 cells for deletion of the TUPLE1 gene in 22q11.2.

The Wisconsin State Laboratory of Hygiene recommends that #SQ CHRBL, EPIC LAB3252 Chromosome Analysis, Blood be ordered along with this test when it is requested.

Performing Laboratory

Meriter Laboratories/Wisconsin State Laboratory of Hygiene

Specimen Requirements

Specimen must arrive within 24 hours of draw.


Specimen Type: Whole blood-Plasma or serum is not acceptable.

Container/Tube: Dark-green top (sodium heparin)-EDTA, sodium citrate, or other anticoagulant is not acceptable.

Specimen Volume: 2-3 mL

Collection Instructions: Immediately invert tube several times to prevent clotting.

Specimen Transport Temperature

Ambient/Refrigerated NO/Frozen NO

Reference Values

Deletion 22q11.2:  detected or not detected

Karyotype written using International System for Human Cytogenetic Nomenclature (ISCN) 2005 and interpretation of results.

Limitations: Very small deletions or point mutations are not detected by this assay. Negative FISH results do not rule out a diagnosis of DiGeorge/velo-cardio-facial/Shprintzen/conotruncal anomaly syndrome.

Reporting Title

22Q Deletion Detection

Day(s) Test Set Up

Monday through Saturday

Turnaround Time:

10 to 14 days

STAT results for newborns available in 3 to 5 days.

Test Classification and CPT Coding

88271 x 2-Molecular cytogenetics; DNA probe, each (eg, FISH)

88273-Chromosomal in situ hybridization, analyze 1 to 30 cells