Microdeletion Syndromes, FISH
Also known as: Microdeletion Syndrome Analysis, Fluorescence in situ Hybridization (FISH)
Use
Confirmation/identification of deletions below the resolution of cytogenetics (Call 800-345-4363 for list of available probes.).
Special Instructions
Not provided.
Limitations
This test can identify deletions that are below the resolution of conventional cytogenetics but does not provide information on other types of chromosomal abnormalities or genetic variations not targeted by the specific FISH probes used in the analysis. Depending on the clinical context, additional tests may be required to fully characterize the genetic changes present.
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Unknown CNV
Copy Number Region
LOINC Codes
- 31208-2 - Specimen source
- 62361-1 - Cells counted
- 62360-3 - Cells analyzed
- 49028-4 - Microdeletion synd Bld/T FISH
- 50020-7 - Microdeletion synd Bld/T FISH
- 48672-0 - Clinical cytogeneticist Spec
- 11502-2 - Laboratory report
Result Turnaround Time
4-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
10 mL (adult), 5 mL (pediatric)
Minimum Volume
5 mL (adult), 1 mL (pediatric)
Container
Sodium heparin tube
Storage Instructions
Maintain specimens at room temperature.
Causes for Rejection
Broken or dirty slides; excessive cellular debris; stains on slides
Other tests from different labs that may be relevant