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Chromosome Analysis

What is chromosome analysis?

  • Chromosome analysis is a test to look at the chromosomes in a sample of cells. It can help identify genetic abnormalities as the cause of a condition or disease.
  • The test can count the number of chromosomes present, and look for any structural abnormalities in the chromosomes.

How is the test done?

  • Most commonly this test is done using a blood sample drawn in the lab.
  • During a pregnancy, cells from amniotic fluid can also be used for testing. They are collected from a chorionic villus sample (CVS) or amniocentesis.
  • Sometimes cells from skin (called fibroblasts) may be tested as well.

What can chromosome analysis be used for?

  • Chromosome analysis may be ordered by your child’s provider to determine genetic causes for intellectual disability, developmental delay, autism spectrum disorder, birth defects, or short stature.
  • May confirm or exclude the diagnosis of a known chromosomal syndrome.
  • If a child has a chromosome abnormality, your provider may recommend more tests or refer you to another specialist.
  • Depending on diagnosis your child may qualify for additional services and therapies.

Early intervention

Help Me Grow Program – birth to 3 years old

  • This is a free, in-home service that can help with your child’s developmental progress.
  • They offer physical therapy, occupational therapy, and speech therapy based on your child’s needs.

Additional treatment may be beneficial for your child.

Resources and Support

Children’s Hospital Specialty Center
Genetics and Genomics Program
2530 Chicago Avenue South
Minneapolis, MN 55404


This sheet is not specific to your child but provides general information.  If you have any questions, please ask the doctors or nurses.

Reviewed 4/2016

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This page is not specific to your child, but provides general information on the topic above. If you have any questions, please call your clinic. For more reading material about this and other health topics, please call or visit Children's Minnesota Family Resource Center library, or visit

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