FISH PROBE: DIGEORGE/VELOCARDIOFACIAL SYNDROME
Del 22q11 - VCFS-FISH for 22q - Digeorge Syndrome - F-Velocardiofacial Syndrome - Cytogenetics
A high resolution chromosome analysis will be performed in conjunction with the FISH analysis. FISH is not a stand-alone test.
FISH using fluorescently labeled DNA for the TUPLE1 (HIRA) region is used to identify deletions of band 22q11.2 found in DiGeorge and velocardialfacial (VCFS) syndromes. 95% of patients fitting the phenotype will demonstrate the deletion by this method.
Specimen Collection Requirements
Whole Blood, unclotted, in a dark green (preservative-free sodium heparin) top tube
Do not refrigerate, freeze, or expose to extreme temperatures. Keep specimen at ambient temperature and transport within 24 hours. Maintain sterility, do not split specimen or open the tube.
Room temperature within 24 hours of collection
Ambient: 24 hours; Refrigerated: Suboptimal, call Cytogenetics at (503) 413-4613
2-3 weeks, 4-7 days on the FISH portion of the test can be arranged by calling the Cytogenetics Lab (503) 413-4613
Fluorescent In Situ Hybridization (FISH)
For questions regarding the report, please call (503) 413-4613
Friday, January 6, 2017 09:51:49 AM
Client Services: 503-413-1234