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Karyotyping (Blood or Bone Marrow)

Published: August 9, 2026Updated: August 16, 2026

This test examines the structure and number of chromosomes in your blood or bone marrow cells to check for genetic abnormalities.

Quick summary

["Karyotyping helps identify potential genetic conditions that may affect your health."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
33773-3
Short code
Karyotyp Amn
Synonyms
Karyotyp Amn
Category
chemistry
Sample
fluid
Container
Sterile tube
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Specimen volume
2-5 mL
Stability
Room temperature: 2h, Refrigerated: 24h
Hemolysis max
300
TAT
4–24 hours
Order
routine

Why Is This Test Done?

A karyotype test is often performed when doctors suspect genetic disorders, chromosomal abnormalities, or conditions like Down syndrome, Turner syndrome, or certain cancers. It may also be used before pregnancy to screen for genetic risks or after a pregnancy loss to investigate possible causes.

How Is the Test Performed?

Blood or bone marrow samples are taken, and cells are cultured to grow in a lab. Chromosomes are then stained, photographed, and arranged in pairs to create a karyotype. This process can take several days to weeks.

What Does the Test Result Mean?

Results show the number and structure of chromosomes. Normal karyotypes have 46 chromosomes (44 pairs of autosomes and 2 sex chromosomes). Abnormalities may include extra or missing chromosomes (aneuploidy) or structural changes like translocations or deletions.

Common Conditions Linked to Karyotyping Results

Findings from karyotyping can reveal conditions such as Down syndrome (trisomy 21), Turner syndrome (monosomy X in females), Klinefelter syndrome (XXY in males), or chromosomal translocations linked to cancers like leukemia.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

Blood or Bone Marrow Chromosome Analysis

Frequently asked questions

What Are the Possible Side Effects or Risks?
The most common side effect is mild discomfort or bruising at the needle insertion site. There are no major risks associated with the blood draw itself. Lab processing involves sterile techniques to prevent contamination.
How Long Does It Take to Get Results?
Results typically take 1–4 weeks, depending on the complexity of the analysis and lab workload. Follow-up with your healthcare provider is needed to discuss findings and next steps.
Is This Test Covered by Insurance?
Coverage depends on medical necessity. Insurance may cover this test if recommended for diagnosing genetic disorders, prenatal screening, or evaluating symptoms of suspected chromosomal abnormalities.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy