Chromosome Analysis, Blood, Breakage Syndromes

Alphabetical Test listing

Chromosome Analysis, Blood, Breakage Syndromes-994

This test requires pathologists review through Client Services before placing an order or collecting a specimen.

  
Chromosome Analysis, Blood, Breakage Syndromes
  
994
  
LAB994
  
MSO
  
Blood, Breakage Study
CHROMO BREAK
Ataxia Telangiectasia
G-band
Nijmegan Breakage Syndrome
Accidental Radiation Exposure
Clastogen Exposure
  

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.
  
Whole Blood
  
  
5 mL
  
3 mL
  

Immediately following collection, mix sample thoroughly by gently inverting 8 - 10 times to prevent clotting.

  

Dk green Sodium heparin (Na hep), no gel

  
  

Ambient - 24 hours

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

 

 

  

Clotted or frozen specimen

Incorrect specimen collection tube (anticoagulant)

  
M Health Fairview Reference Laboratories (LAB4692); R-NX
  
Mo - Su
  
7 - 21 days
  

Chromosome breakage analysis; determined by laboratory director based on clinical infromation

  
88230 x1, 88248 x1
  
Yes
  
07/31/2023
  
08/15/2023
  
07/31/2023