Genetics
Medical Conditions
Any inherited disorder, for example:
- Down’s syndrome (trisomy 21)
- Cystic fibrosis
Specialty Areas of Interest
- Prenatal diagnosis
- Genetic counselling
- Cancer genetics
- Research
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Associated Tests
- Blood tests
- Chromosomal testing (DNA analysis)
- Amniocentesis
- Choriocentesis
Procedures
What to expect
History
A geneticist will focus a great deal on history – the initial interview. Usually a person will present because they have had a past history or family history of a genetic problem and need to know more about it. This is most often the case when prospective parents are concerned about the possibility they may have a baby with an inherited disorder, either because they have done so before or because there is a family history of a genetic problem.
The geneticist will ask about the particular disorder and the patient’s concerns. They will ask about family history and risk factors for inherited disorders.
They will then give advice, or if necessary conduct genetic testing. They are experts at assessing risk and giving counselling about the risks and options available.
Examination
Your geneticist may simply give advice. An examination may be required to determine if you have an inherited disorder with some specific physical traits. This will be tailored to the condition being suspected by the geneticist and will usually be a fairly general examination.
Training and Qualifications
Links
A: Use HealthEngine to find and book your next GP appointment. Click on the following locations to find a GP clinic in your state or territory.
This article is for informational purposes only and should not be taken as medical advice. If in doubt, HealthEngine recommends consulting with a registered health practitioner.
All content and media on the HealthEngine Blog is created and published online for informational purposes only. It is not intended to be a substitute for professional medical advice and should not be relied on as health or personal advice. Always seek the guidance of your doctor or other qualified health professional with any questions you may have regarding your health or a medical condition. Never disregard the advice of a medical professional, or delay in seeking it because of something you have read on this Website. If you think you may have a medical emergency, call your doctor, go to the nearest hospital emergency department, or call the emergency services immediately.
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