Test Code FISHD FISH, DiGeorge, Velocardiofacial (VCFS)
Specimen Required
5 mL whole blood collected in a sodium heparin (green-top) tube
Specimen Minimum Volume
1 mL whole blood. 5 mg CVS
Specimen Stability
Room temperature: See instructions Refrigerated: See instructins Frozen: See instructions
Rejection Due To
Received frozen
Method Name
Fluorescence in situ Hybridization (FISH)
Includes
If this test is ordered on blood without routine G-band chromosome analysis, a Tissue Culture charge will be added, (CPT code: 88230). If results are not possible, the test order may be canceled and replaced with a Cytogenetics Communication.
Collection Container / Tube
Preferred: Sodium Heparin (green-top)
Other Acceptable Container: Sterile container 5 mg CVS in culture media, Whole blood collected in:
sodium heparin (royal blue-top), or sodium heparin lead-free
(tan-top) tube
Transport / Storage Conditions
Room temperature
Special Instructions
Clinical history and reason for referral are required with test
order.
3-5 mL whole blood collected in sodium heparin tube; or 5 mL
amniotic fluid collected in sterile container or 5 mg CVS in culture media.
Specimen viability decreases during transit. Send specimen to
testing lab for viability determination. Do not freeze. Do
not reject.
Reference Values
See Laboratory Report
Day(s) Performed
Set up: Mon-Sat; Report available: 6 days
CPT Codes
88271, 88273
Clinical Reference
This test is used to detect microdeletions of chromosome 22q11
associated with DiGeorge, Velocardiofacial (VCFS) syndrome, using FISH
(fluorescence in situ hybridization).
Clinical indications to perform this test prenatally include a
previous child with a 22q11.2 deletion or DiGeorge/velocardiofacial
syndrome, an affected parent with a 22q11.2 deletion, and in utero
detection of a conotruncal cardiac defect (Genet Med.
2001;3(1):14-8).