• Test Code:
    6650
  • Department:
  • Test Synonyms:
    Chromosome InstabilitySCEBloom syndrome
  • CPT Code(s):
    882308828388285
Background:

Increased sister chromatid exchanges (SCEs) following treatment of cells with bromodeoxyuridine (BrdU) is a hallmark of Bloom syndrome and a result of genome instability.  Bloom syndrome cells also show increased breakage when exposed to cross-linking agents, such as mitomycin C and diepoxybutane.  SCE analysis is an appropriate screen when Bloom syndrome is suspected and, if positive, can be followed by mutation analysis of the BLM gene.

Methodology:

Specimen Requirements:

Blood:  

  • 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.

Skin Fibroblast:

  • Skin at least 3 cubic mm in size.
  • Handle specimens aseptically.
  • Collect in Cytogenetics Tissue Transport Medium, sterile Ringer's solution, or in sterile normal saline.
  • 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:

7-10 days for blood samples, and 10-18 days for skin fibroblasts.

Shipment Sensitivity Requirements:

  • Keep specimen at room temperature during transit. 
  • Do not use the cold pack provided in the KDL shipping kit. 
  • Ship the specimen overnight express, using the FedEx priority overnight label provided. 
  • The specimen must arrive at the lab no more than 24 hours after collection.

References:

Additional Info:

After hours, please leave message at (855) 535-1522 for the on call cytogenetic technologist.

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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