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

Message
Please submit completed Postnatal Clinical Information Form.  See link in Additional Infomation.
Please use Internet Explorer. Links in additional information are not supported by Chrome.

Test Code
MDFCPDGVCFS or 14610

Alias/See Also
22q Deletion, Shprintzen Syndrome, CATCH 22, Deletion 22q11, Velo-Cardio Facial Syndrome, VCFS DiGeorge FISH, DiGeorge Syndrome

CPT Codes
88271, 88273

Instructions
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.

Transport Container
Sumit whole blood. Do not centrifuge.

Transport Temperature
Ambient temperature. Do not freeze.

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

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen.

Methodology
Fluorescence in situ hybridization (FISH)

Setup Schedule
Monday - Friday

Report Available
up to 7 days

Limitations
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.

Reference Range
See laboratory report.

Clinical Significance
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.

Performing Laboratory
med fusion

Additional Information
Postnatal Clinical Information Form


The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.