DiGeorge/VCFS Syndrome

DiGeorge syndrome/Velocardiofacial syndrome (VCFS) is characterized by a wide range of clinical findings including developmental delay, congenital heart disease, abnormalities of the palate, and immune deficiency. In most cases, DiGeorge syndrome/VCFS is caused by deletions of chromosome 22q11.2.

Indications for Testing

• Confirmation of a DiGeorge syndrome/VCFS diagnosis in affected individuals
• Individuals with atypical clinical findings

Testing Methodology

FISH analysis for DiGeorge syndrome/VCFS is performed on metaphase chromosomes to detect deletions of chromosome 22q11.2. If not previously performed, chromosomal analysis is recommended in addition to the FISH study.

Specimen Requirements

Blood: For adults and children, 3 – 5 cc collected in a sodium heparin (green top) vacutainer tube. For newborns, 2 cc is sufficient. Do not centrifuge or freeze. Store sample at room temperature.

Turnaround Time

8 days

CPT Codes

88230, 88271, 88273, 88291