FISH assay for DiGeorge, Velocardiofacial Syndrome (VCFS) : 14610

Please submit completed Postnatal Clinical Information Form. Contact  med fusion Client Services for form.

MDFCPDGVCFS or 14610

22q Deletion, Shprintzen Syndrome, CATCH 22, Deletion 22q11, Velo-Cardio Facial Syndrome, VCFS DiGeorge FISH, DiGeorge Syndrome

5 mL (Min: 2 mL) Peripheral Blood in a green top sodium heparin tube or for infants 2-3 mL in sodium heparin pediatric tube.

Sumit whole blood. Do not centrifuge.

Ambient temperature. Do not freeze.

Specimen viability decreases during transit.  Send specimen to testing lab for viability determination.   Room temperature: Preferred; Refrigerated: Acceptable; Frozen: Unacceptable

Received frozen.

Monday - Friday

up to 7 days

Laboratory test results should always be considered in the context of clinical observations. This test was developed and its performance characteristics determined by med fusion. It has not been cleared or approved by the U.S. Food and Drug Administration(FDA). The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity clinical laboratory testing.

See laboratory report.

DiGeorge syndrome (DGS) (also known as velocardiofacial or shprintzen syndrome) is characterized by hemizygous deletions of the 22q11.2 chromosomal region.  Clinical phenotype varies according to the extent of the genomic deletion but typically involves conotruncal cardiac defects, palatal abnormalities, learning and behavioral problems, immune deficiency and facial anomalies. The FISH assay targets the critical proximal chromosome 22q11.2 region which is found deleted in DGS.