Many important conditions afflicting unborn babies (foetus) as well as children and adults can only be diagnosed by examination of chromosomes, their genetic material (see What is Cytogenetics).

Highly-trained scientists called "cytogeneticists" can analyze chromosomes using a variety of techniques, but most of these techniques first require getting specimens of live cells from the patient; for example, blood from an adult, or amniotic fluid or a sample of the placenta in the case of a fetus.

Your doctor will usually request analysis of chromosomes if he suspects one or a small number of diseases due to abnormal chromosomes. For example, a pregnant woman over 40 years of age who has specific abnormalities found on blood testing (the so-called "triple screen") is at high risk of having a fetus with Down Syndrome, a condition which is due to having an extra copy of chromosome 21 (Trisomy 21). Finding normal chromosomes offers some assurance, but never complete assurance, that the fetus or person is normal and healthy.

TissuPath's cytogeneticists are all highly trained and are familiar with the whole range of tests used to diagnose chromosomal and genetic abnormalities.