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Diagnostic Services

Genetics Lab


22q11.2 Deletion/Duplication Syndrome - FISH

Deletion of 22q11.2 leads to a wide variety of anomalies including congenital heart disease, palatal abnormalities, submucosal cleft palate and cleft palate, characteristic facial features and learning difficulties. Most idividuals have an immune deficiency regardless of their clinical presentation. Additional findings include: hypocalcemia, significant feeding problems, renal anomalies, hearing loss (both conductive and sensorineural), laryngotracheoesophageal anomalies, growth hormone deficiency, autoimmune disorders, seizures (without hypocalcemia), and skeletal abnormalities.

Test Name: Fluorescent in situ hybridization (FISH) ONLY to R/O: 22q11.2
Test Code:
Test Description:
Fluorescent in-situ hybridization of chromosome 22.
DiGeorge Syndrome (DGS), Velocardiofacial Syndrome (VCFS), Shprintzen Syndrome, Conotruncal Anomaly Face Syndrome (CTAF), Caylor Cardiofacial Syndrome, Autosomal Dominant Opitz G/BBB Syndrome
Indicated for individuals with some or all of the following findings: congenital heart disease (conotruncal malformations), palatal abnormalities (velopharyngeal insufficiency),hypocalcemia, immune deficiency, learning difficulties, characteristic facial features.
Related Tests: Gaucher (beta-glucosidase)  

Clinical Links:
Collected daily
Turnaround Time:
1-2 weeks
Reference Range:
Interpretive report will be provided
Consent Form:
Sample Requirements: Type
Whole Blood: adults 3-5 mL infants1 - 3 mL heparin (green) top tube. No gel separator

Keep at room temperature

Ship overnight at room temperature
Samples Received:
Mon - Fri 8:00am - 5:00pm PST
Special Considerations:
Can also order CH-FISH + KARY to order FISH and karyotype.
Please e-mail Client Services or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Client Services or call at 206-987-2617 with any billing questions