• Skip to main content
Search
  • Home
  • Services
      • Behavioral Health
      • Bloodless Medicine
      • Brain & Spine
      • Cancer Care
      • Ear, Nose and Throat
      • Emergency Care
      • Senior Health
      • Heart & Vascular Care
      • Home Health Care
      • Immediate Care
      • Medical Imaging
      • Minimally Invasive Surgery
      • Orthopedics
      • Pregnancy & Childbirth
      • Primary Care
      • Rehabilitation Services
      • Weight Loss Surgery
      • Wound Healing & Care
      • Women's Health
  • Doctors
      • Find a Primary Care Doctor
      • Find a Doctor
      • Physician Referral
      • Practices:

        Baptist Primary Care
      • Baptist AgeWell
      • Baptist Behavioral Health
      • Baptist Endocrinology
      • Baptist ENT Specialists
      • Baptist Heart Specialists
      • Baptist Infectious Diseases
      • Baptist MD Anderson Cancer Physicians
      • Baptist Neurology
      • Baptist Pediatrics
      • Baptist Pulmonary Specialists (Nassau)
      • Baptist Rheumatology
      • Baptist Urology Group (Nassau)
      • Jacksonville Orthopaedic Institute
      • Lyerly Neurosurgery
  • Locations
    • Our Hospitals:

      • Baptist Medical Center Jacksonville
      • Baptist Medical Center South
      • Baptist Medical Center Beaches
      • Baptist Medical Center Nassau
      • Baptist Heart Hospital
      • Wolfson Children's Hospital

      Emergency Rooms (ER):

      • All ER Locations

      Imaging:

      • By Location

      • Imaging Center Locations
      • By Service

      • MRI
      • Bone Density
      • Screening Mammography
      • Diagnostic Mammography
      • Ultrasound
      • Vascular Ultrasound
      • CT Scan
      • PET Scan
      • Nuclear Medicine
      • X-Ray

      Urgent Care Locations:

      • Baptist Health Clinics at Walgreens
      • CareSpot Urgent Care

      Outpatient Locations:

      • AgeWell Center for Senior Health
      • Baptist Clay Medical Campus
      • Baptist MD Anderson Cancer Center
      • Baptist Neurodiagnostic Center
      • Baptist North Medical Campus
      • Heart and Vascular Testing Centers
      • Hill Breast Center
      • Infusion Center
      • Pharmacy
      • Rehabilitation Centers
      • Robotic Spine Surgery
      • Sleep Centers
      • Stroke and Cerebrovascular Center
      • Surgery Centers
      • Wound Care

      Health & Wellness:

      • 4her Wellness Resources for Women
      • JCA Wellness Connexion
      • Y Healthy Living Centers
  • Patient Info
      • Billing & Insurance Information
      • Insurance Plans Accepted
      • Cost Estimate Request
      • Financial Assistance Program
      • My Baptist Connect (Patient Portal)
      • Medical Records
      • Classes and Events
      • Clinical Trials
      • Tell Us What You Think
  • Health Library
      • Diseases and Conditions
      • Symptoms
      • Tests
      • Surgeries and Procedures
      • Injuries
      • Nutrition
      • Poison
      • Drug Information
      • Drug Images
      • Health News
      • Video Library
  • About Us
      • Administration
      • Awards & Honors
      • Careers
      • Provider Opportunities
      • Baptist MD Anderson Provider Opportunities
      • Spiritual Care
      • Social Responsibility
      • Community Health Needs Assessment (CHNA)
      • Corporate Wellness (PATH)
      • Volunteering
      • Newsroom
  • Juice
      • Health News Overview:

      • Aging Well
      • Brain, Spine & Nerve
      • Cancer
      • Child Health
      • Community Health
      • Diabetes
      • Ear, Nose & Throat
      • Heart & Vascular
      • Lungs, Breathing & Sleep
      • Mental Health
      • Orthopedics, Bones & Muscles
      • Pregnancy & Childbirth
      • Primary Care
      • Wellness
      • Women's Health
      • Men's Health
  1. Home
  2. Health Library
  3. Tests
  4. Karyotyping

Karyotyping

Tests
Chromosome analysis

Karyotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of a disorder or disease.

The test can be performed on almost any tissue, including:

  • Amniotic fluid
  • Blood
  • Bone marrow
  • Tissue from the organ that develops during pregnancy to feed a growing baby (placenta)

To test amniotic fluid, an amniocentesis is done.

A bone marrow biopsy is needed to take a sample of bone marrow.

The sample is placed into a special dish or tube and allowed to grow in the laboratory. Cells are later taken from the new sample and stained. The laboratory specialist uses a microscope to examine the size, shape, and number of chromosomes in the cell sample. The stained sample is photographed to show the arrangement of the chromosomes. This is called a karyotype.

Certain problems can be identified through the number or arrangement of the chromosomes. Chromosomes contain thousands of genes that are stored in DNA, the basic genetic material.

How to Prepare for the Test

Follow the health care provider's instructions on how to prepare for the test.

How the Test will Feel

How the test will feel depends on whether the sample procedure is having blood drawn (venipuncture), amniocentesis, or bone marrow biopsy.

Why the Test is Performed

This test can:

  • Count the number of chromosomes
  • Look for structural changes in chromosomes

This test may be done:

  • On a couple that has a history of miscarriage
  • To examine any child or baby who has unusual features or developmental delays

The bone marrow or blood test can be done to identify the Philadelphia chromosome, which is found in 85% of people with chronic myelogenous leukemia (CML).

The amniotic fluid test is done to check a developing baby for chromosome problems.

Your provider may order other tests that go together with a karyotype:

  • Microarray: Looks at small changes in the chromosomes
  • Fluorescent in situ hybridization (FISH): Looks for small mistakes such as deletions in the chromosomes

Normal Results

Normal results are:

  • Females: 44 autosomes and 2 sex chromosomes (XX), written as 46, XX
  • Males: 44 autosomes and 2 sex chromosomes (XY), written as 46, XY

What Abnormal Results Mean

Abnormal results may be due to a genetic syndrome or condition, such as:

  • Down syndrome
  • Klinefelter syndrome
  • Philadelphia chromosome
  • Trisomy 18
  • Turner syndrome

Chemotherapy may cause chromosome breaks that affect normal karyotyping results.

Risks

Risks are related to the procedure used to obtain the sample.

In some cases, a problem may occur to the cells growing in the lab dish. Karyotype tests should be repeated to confirm that an abnormal chromosome problem is actually in the body of the person.

References

Bacino CA, Lee B. Cytogenetics. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 81.

Stein CK. Applications of cytogenetics in modern pathology. In: McPherson RA, Pincus MR, eds. Henry's Clinical Diagnosis and Management by Laboratory Methods. 23rd ed. St Louis, MO: Elsevier; 2017:chap 69.

BACK TO TOP

Review Date: 10/15/2018

Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

 
 
 

 

 

A.D.A.M. content is best viewed in IE9 or above, Fire Fox and Google Chrome browser.
Content is best viewed in IE9 or above, Fire Fox and Google Chrome browser.

Tests for Karyotyping

  • Karyotyping

Related Information

  • Chronic myelogenous leukemia (CML)

  • Down syndrome

  • Klinefelter syndrome

  • Turner syndrome

Daily Health and Medical News

Results for analysis, chromosome, chromosome analysis, chromosomes, karyotype

  • Is That Prostate Cancer Worth Treating? Chromosomes May Tell
    May 13, 2019

© Copyright 2019 | All Rights Reserved

If you speak another language, assistance services
free of charge, are available to you.

Baptist Health Facebook Baptist Health Twitter Baptist Health on LinkedIn Baptist Health on Instagram Baptist Health on Youtube
Physician Login | Application Login | Employee Login
Quality Measures | Privacy | Non-Discrimination | Comments | Site Map