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Chromosome FISH, Metaphase
Ordering Recommendation
FISH probes for specific microdeletion/microduplication syndromes must be specified; if no specific syndrome is in question, genomic microarray should be ordered instead of screening multiple loci by FISH.
New York DOH Approval Status
Specimen Required
Green (sodium heparin). Also acceptable: Nondiluted bone marrow aspirate collected in a heparinized syringe.
Transport 5 mL whole blood (Min: 2 mL). OR transfer 3 mL bone marrow to a green (sodium heparin) (Min: 1 mL).
Room temperature.
Paraffin-embedded specimens. Clotted specimens.
Desired FISH probe and pertinent clinical diagnosis required with test order. Testing will not be performed until probe and diagnosis are provided; absence of this information will delay turnaround time.
Counseling and informed consent are recommended for genetic testing. Consent forms are linked above.
New York Clients: informed consent is required with submission.
Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Methodology
Fluorescence in situ Hybridization (FISH)
Performed
Sun-Sat
Reported
3-10 days
Reference Interval
By report
Interpretive Data
Laboratory Developed Test (LDT)
Note
Time required for culture as well as testing can vary depending on specimen type and probes ordered.
Please indicate names of probes requested. Constitutional FISH Probe menu is available at https://www.aruplab.com/genetics/tests/fish-constitutional.
Contact ARUP Genetics Processing at extension 3301 to add a probe to a current specimen.
A processing fee will be charged if this procedure is canceled at the client's request, after the test has been set up, or if the specimen integrity is inadequate to allow culture growth. The fee will vary based on specimen type.
It is recommended that all FISH studies be done in conjunction with routine cytogenetic analysis. (Refer to appropriate Chromosome Analysis test for order instructions).
If cell pellets or dropped cytogenetic slides are submitted, processing fee will not apply.
This test must be ordered using Cytogenetic test request form #43097 or through your ARUP interface.
Other specimen types may be acceptable, contact the Cytogenetics Laboratory for specific specimen collection and transportation instructions.
Submit the Patient History for Pediatric/Adult Cytogenetic (Chromosome) Studies form with the electronic packing list (https://ltd.aruplab.com/Tests/Pdf/20).
Hotline History
CPT Codes
88271; 88273
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 0097615 | Chromosome FISH, Metaphase | 21717-4 |
| 2002202 | EER Chromosome FISH, Metaphase | 11526-1 |
Aliases
- 15q11.2-13 duplication (15q11.2-13)
- Prader-Willi syndrome (15q11.2-13)
- SHOX (Xp22.3)
- Smith-Magenis syndrome (17p11.2)
- SRY/male detection (Yp11.3)
- Steroid sulfatase deficiency (STS) (Xp22.3)
- Williams (elastin) syndrome (7q11.23)
- Wolf-Hirschhorn (4p-) syndrome (4p16.3)
- Yq12
- Angelman syndrome (15q11.2-13)
- Cri-du-chat (5p-) syndrome (5p15.2)
- DiGeorge/Velocardiofacial (VCF) syndrome (22q11.2)
- Kallmann syndrome (Xp22.3)
- Miller-Dieker (Lissencephaly) syndrome (17p13.3)
- Phelan-McDermid (22qter) syndrome (22q13.3)
