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

This test is New York state approved.

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.


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


Fluorescence in situ Hybridization (FISH)




3-10 days

Reference Interval

By report

Interpretive Data

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Compliance Category

Laboratory Developed Test (LDT)


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 https://www.aruplab.com/genetics/tests/cytogenetics.   
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


Component Test Code* Component Chart Name LOINC
0097615 Chromosome FISH, Metaphase 21717-4
2002202 EER Chromosome FISH, Metaphase 11526-1
* 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
Chromosome FISH, Metaphase