• Test Code:
  • Department:
    Constitutional FISH
  • Test Synonyms:
  • CPT Code(s):

Fluorescent in situ hybridization (FISH) with the SMS probe detects deletion in the Smith-Magenis syndrome region of 17p11.2.


Slides are prepared per standard protocols. 10 metaphase cells are scored per probe.  This FISH test is used as a supplement to standard G-banded chromosome analysis.

Specimen Requirements:


  • Adult - 3-5 mL drawn into a GREEN top sodium heparin vacutainer tube or into a pre-heparinized plastic syringe (use 0.2 cc sodium heparin, 1000 unit/mL).  Do NOT use lithium heparin.
  • Child - 1-2 mL, as above.
  • Infant - 1-2 mL, as above. 
  • Keep at room temperature and transport to laboratory as soon as possible.
  • Contact Client Services at (855) 535-1522 for supplies and instructions.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Mon - Sat

Turn Around Time:

3 - 7 days

Shipment Sensitivity Requirements:

Ship via overnight express, using the FedEx priority overnight label provided.  Use cold pack to keep specimens cool, but not frozen.  Contact Client Services at (855) 535-1522 for shipping kits and instructions.


For Smith-Magenis syndrome clinical and testing review see NCBI GeneReviews:

Additional Info: