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Genetic Analysis – Karyotype

What is a karyotype test?

A karyotype test looks at the size, shape and number of your chromosomes. Chromosomes are the most complex components of the nucleus contained in your genes. Genes are part of the DNA (genetic material) passed down from your mother and father. They hold information that defines your unique features, such as eye height and color. Humans typically have 46 chromosomes, divided into 23 pairs, in each cell. One of each pair of chromosomes comes from your mother, and the other couple comes from your father. If you have more or less chromosomes than 46, or if there is anything unusual about the size or shape of your chromosomes, it could mean you have a genetic disease. A karyotype test is often used to help find genetic defects in a developing child. Other names: genetic testing, chromosome testing, chromosome studies, cytogenetic analysis.

What is it used for?

A karyotype test can be used for:

  • Check an unborn baby for genetic disorders.
  • Diagnose a genetic disease.
  • Find out if a chromosomal defect is preventing a woman from becoming pregnant or is causing miscarriages.
  • Check a newborn baby (a baby who died late in pregnancy or during birth) to see if a chromosomal defect was the cause of death.
  • See if you have a genetic disorder that can be passed on to your children.
  • Diagnose or make a treatment plan for certain types of cancer and blood disorders.
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