Chromosome Analysis, Blood, Breakage Syndromes

Sunquest Code:BLBRCGCoPath Code:BLBR
Epic Code:LAB4692Epic Name:Blood, Breakage Study
Sunquest Code (non-Epic sites):BLBRCG  
Methodology:Determined by laboratory director based on clinical information. Chromosome breakage analysis.
Turnaround Time: Results are reported within 7-21 days.
Special Instructions:Test request form requires:
  • Date and time of specimen collection
  • Specimen type
  • Patient information: date of birth, sex and medical record number
  • Ordering physician and contact number
  • Reason for referral
  • Clinical status
  • Information regarding medications or transfusions
  • Previous or pending genetic testing results
Associated Links:

Genetic Testing Consent Form

Collection Instructions

Specimen:Whole blood
Optimal Volume:5 mL
Minimum\Peds Volume:3 mL
Container:Green (sodium heparin, no gel)
Causes for Rejection:Clotted or frozen specimen. Incorrect specimen collection tube (anticoagulant).

Processing and Shipping

Specimen Processing:Specimens are processed daily, Mon-Sun. Specimens must be received in the Cytogenetics laboratory Mon-Fri by 530 pm; Weekends and Holidays by 430 pm. Specimens received after these cutoffs will be processed the following day. Store at room temperature.
Shipping Instructions:Ship at room temperature.
For optimal testing results the specimen must arrive within 24 hours.  
Test Performed at or Referral Lab Cytogenetics  (UMMC-East Bank)


Use: Evaluation of baseline (sometimes referred to as spontaneous) chromosomal breakage may be indicated in patients who:
  1. Have had intentional or accidental exposure to radiation or other clastogen exposure.
  2. Are suspected of having a chromosomal instability disorder such as ataxia telangiectasia or Nijmegen Breakage Syndrome.

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