Karyotyping
Karyotyping Services
TissuPath's Division of Cytogenetic Services provides full karyotyping services at the highest international standard. Our laboratory is fully NATA-accredited for karyotyping, and all our senior cytogeneticists are HGSA-qualified.
Who needs karyotyping?
Your GP or specialist will recommend when it is relevant to have a karyotype and/or FISH test. Some situations when this may occur include:
- During a pregnancy, when it is possible to sample the baby’s cells (either chorionic villi sampling (“CVS”) or amniocentesis (“amnio”) to determine if the baby has a chromosome abnormality. There are various screening tests which your doctor can recommend to determine if your pregnancy is at a high risk of Down Syndrome (trisomy 21) or Edward Syndrome (trisomy 18).
- If you have had more than 3 miscarriages, to determine whether either you or your partner have a change to your chromosomes which may be contributing to your miscarriages.
- As part of a testing regime if you are having trouble getting pregnant.
- If your doctor suspects that either you or your child has a particular syndrome or disease that can be detected by either karyotyping or FISH testing, for example:
- Adolescents who fail to go through puberty (fail to develop secondary sexual characteristics such as pubic and axillary hair)
- Children with delayed developmental milestones such as learning to speak
- To assist with diagnosis, prognosis, and/or treatment options if you have cancer or are suspected of having cancer. In this case, Cytogenetic Services requires a sample of the suspect cancer for testing, and they will work with pathologists in the Histopathology Division to provide results.
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