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. 

Fluorescence in situ Hybridization
3-10 days
New York DOH Approval Status
This test is New York DOH approved.
Time SensitiveTime Sensitive
Cytogenetic Test Request Form Recommended (ARUP form #43097)Cytogenetic Test Request Form Recommended (ARUP form #43097)
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Green (sodium heparin). Also acceptable: Non-diluted bone marrow aspirate collected in a heparinized syringe.  
Specimen Preparation
Transport 5 mL whole blood (Min: 2 mL). OR transfer 3 mL bone marrow to a green (sodium heparin) (Min: 1 mL).  
Storage/Transport Temperature
Room temperature.  
Unacceptable Conditions
Paraffin-embedded specimens. Clotted specimens.  
Submit the Patient History for Cytogenetic (Chromosome) Studies form with the electronic packing list (available at
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.  
Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable  
Reference Interval
By report
Interpretive Data
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at

Compliance Statement A: For laboratory developed tests using a manufacturer labeled ASR as the reagent providing the specificity of the assay. Analyte Specific Reagent. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, the FDA has determined that such clearance or approval is not necessary.
Time required for culture as well as testing can vary depending on specimen type and probes ordered.
Please indicate names of probes requested. Molecular Cytogenetics (FISH) Probe menu is available at 
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.
CPT Code(s)
88271; 88273; 88291
Component Test Code*Component Chart NameLOINC
0097615Chromosome FISH, Metaphase21717-4
2002202EER Chromosome FISH, Metaphase11526-1
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • 15q11.2-13 duplication (15q11.2-13)
  • 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)
  • 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