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
It is important to include pertinent clinical diagnosis, previous cytogenetic studies, and the probe of interest with the specimen submission. Proper labeling and handling of slides are critical to ensure accurate results. Ensure all collection and preparation instructions are followed to prevent sample rejection.
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
LOINC Codes
- 31208-2
- 62361-1
- 62360-3
- 49028-4
- 50020-7
- 48672-0
- 11502-2
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