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

Chromosome abnormalities have a significant impact on human health, from early embryonic development through adulthood.  Chromosome imbalance can be associated with failure to thrive, birth defects, developmental delay, mental retardation, learning disabilities, heart defects, short stature and neurological problems.  Balanced chromosome rearrangements in a healthy parent may lead to recurrent pregnancy loss, infertility, or birth of a child with anomalies.

High resolution chromosome analysis is the state-of-the-art method for visualizing numerical and structural chromosome aberrations.  Not only will this test detect extra chromosomes, such as the extra chromosome 21 in Down syndrome, but it will also identify structural chromosome changes, including subtle deletions and additions of material not possible to see in shorter chromosome preparations.


Chromosome analysis (karyotyping) with banding (>700 bands) 
Reflex testing to FISH as appropriate to confirm diagnosis.

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):


Turn Around Time:

10-12 Days

Shipment Sensitivity Requirements:

  • Keep specimen at room temperature during transit. 
  • Please contact Client Services at (855) 535-1522 for shipping kits and instructions. 
  • 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.


Additional Info:

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