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Metaphase / Interphase FISH
|Test group||Chromosome Analysis|
|Performed by||Medical Genomics - Cytogenetics|
|In House Availability||Set up daily, Monday-Friday|
|Method||Fluorescent in-situ hybridization|
|Collection Instructions||Complete and submit a "UCSF Reproductive Genetics Lab Results" or a "UCSF Cytogenetic Requisition" form and send with the samples.
Click here for Cytogenetics Requisition
Keep samples at Room temperature. DO NOT CENTRIFUGE for any reason.
|Container type||Blood: Dark green top
Amniotic fluid: Sterile screw top container
CVS or POC: 15 mL centrifuge tube with transport media (RPMI, FBS, L-Glutamine, Sodium Heparin and PenStrep). Available from Cytogenetics, 415-353-3844.
|Amount to Collect||
|Sample type||Heparinized whole blood, Amniotic fluid, CVS, Unfixed tissue|
|UCSF Rejection Criteria||Insufficient volume; unlabeled tubes; clotted samples; broken, leaking or contaminated tubes; frozen samples.|
|Processing notes||Keep samples at Room temperature. DO NOT CENTRIFUGE for any reason. Send all tubes and completed paperwork asap to the Cytogenetics laboratory at China Basin.|
|Normal range||Normal. See Additional Information|
|Synonyms||Cytogenetic analysis; microdeletion; chromosome analysis; inherited disorders; oncology FISH; non-oncology FISH; Karyotype; Karyotyping; Wolf Hirshhorn; 4p16; Cri du Chat; 5p15; Williams; 7q11.23; Retinoblastoma; 13q14; Prader Willi; Angelman; SNRPN; 15q11-q13; Smith; Magenis; 17p11.2; Miller Dieker ; 17p13.3; DiGeorge; distal 22q; TUPLE1; ARSA; 22q11.2/22q13; Kallman syndrome; Xp22.3; Steroid sulfatase deficiency; Xp22.3; SRY Region; Yp11.3|
|Turn around times||7-14 days|
|Reflex?||If an abnormality is detected the Director will determine the appropriate additional studies to be performed to characterize the abnormality.
Additional testing may be omitted if specifically requested when the sample is submitted for cytogenetic analysis.
|Additional information|| A normal result indicates that there was no evidence of a deletion present. However, this does not exclude the possibility that an undetected mutation exists.
Submicroscopic deletions in the regions listed below, associated with the specified syndromes, are detected by the examination of 10 metaphase cells using the appropriate probe set with an internal control. A normal result indicates there was no evidence of deletions or other abnormal hybridization
Retinoblastoma RB1 13q14
**The DNA methylation test "PWA" must be done prior the FISH test for microdeletion detection for Prader Willi/Angelman syndrome.
See Molecular Diagnostics-test Prader Willi/Angelman for sample collection information.
Each FISH test is developed and its performance characteristics determined by
the UCSF Cytogenetics Laboratory as required by CLIA '88 regulations. It has not been cleared or approved for specific uses by the U.S. Food and Drug Administration. All FISH probes undergo internal validation and quality
control testing at UCSF Cytogenetics Lab prior to use.
|CPT coding||88273, 88271|
|Last Updated||2/28/2014 8:54:28 AM|
If you have additional questions regarding this test, please call: 415-353-1667