- 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 http://www.aruplab.com/genetics/forms.php).
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
Please indicate names of probes requested. Molecular Cytogenetics (FISH) Probe menu is available at http://www.aruplab.com/Lab-Tests/Genetics/cytogenetics.jsp
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.
|Component Test Code*||Component Chart Name||LOINC|
|0097615||Chromosome FISH, Metaphase||21717-4|
|2002202||EER Chromosome FISH, Metaphase||11526-1|
- 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)