Genetic Counseling

Personalized pre- and post-test counseling support

Get started

Non-invasive prenatal screening

Get started

Whole exome sequencing solution

Get started

Comprehensive carrier screening

Get started

Hereditary cancer panel testing

Get started

Karyotype Test

A karyotype is a genetic test performed on blood or body fluids to analyze and evaluate the number and structure of a person’s chromosomes to detect abnormalities.

When is a Karyotype test offered?

A Karyotype test is indicated in the following circumstances:

  • Couples facing difficulties in conceiving
  • Patients with certain cancers or blood disorders, e.g., anemia, leukemia, lymphoma, or multiple myeloma
  • Individuals with a family history of chromosome rearrangement
  • High-risk developing fetus
  • Investigation of fetal death that occurs late in pregnancy or during birth
  • Diagnosis of genetic disorders in newborns or young children

How is the test performed?

A Karyotype is carried out to identify the cause of a suspected genetic disorder. The test can detect the presence of numerical, or structural rearrangements such as translocations, inversions, and deletions/duplications.

In cases of infertility, identified carriers of chromosome rearrangements can undergo Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR), to select embryos that are non-carriers of unbalanced forms of the rearrangements.

A Karyotype test report will detail the total number of chromosomes present in the sample and whether a numerical or structural abnormality has been detected. Abnormal Karyotype results could mean that the person or fetus may have unusual chromosomes which may indicate one of the following:

  • Numerical abnormality: e.g., Down syndrome, Turner syndrome
  • Structural abnormality: e.g., translocation, inversion, deletion, or duplication