Genetic Screening

Follow the links below to find information on genetic screening and diagnosis of genetic diseases and conditions.

Created February 2009

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30 Resources Found
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Title:   Family cancer clinics in Australia
Publisher:   The Cancer Council Australia
Description:   Provides information about family clinics and links to family cancer clinics in Australia.
Date:   Aug 2009
Title:   Genetic testing for family cancer
Publisher:   The Cancer Council Australia
Description:   Provides information about genetic testing for those with a family history of cancer
Date:   Aug 2009
Title:   Family cancers
Publisher:   The Cancer Council Australia
Description:   Provides general information about family cancers and those at risk.
Date:   Aug 2009
Title:   Genetic testing for hereditary diseases
Publisher:   Virtual Medical Centre.com
Description:   Information on genetic testing for hereditary diseases, written by professional medical specialists.
Date:   Jul 2009
Title:   Von Willebrand Disorder - Bleeding Disorders
Publisher:   Haemophilia Foundation Australia
Description:   Information about von Willebrand disorder or disease (vWD), how common it is, how it is passed on, inheritance and treatment.
Date:   Jun 2009
Title:   Pharmacogenetics of warfarin – is testing clinically indicated?
Publisher:   Australian Prescriber
Description:   Pharmacogenetics is genetic testing to optimise prescribing for individual patients. Warfarin is a potential candidate for pharmacogenetic testing.
Date:   Jun 2009
Title:   Family cancer services
Publisher:   The Cancer Council Victoria
Description:   Contact details and information about the Victorian Family Cancer Genetics Service, which is part of Cancer Council Victoria.
Date:   May 2009
Title:   Wilson's disease
Publisher:   Better Health Channel
Description:   Wilson's disease is a genetic disorder that prevents the body from eliminating copper. The excess copper damages certain structures including the liver and nervous system. Wilson's disease is also known as hepatolenticular degeneration. There is no cure for this potentially fatal disease, but it can be managed.
Date:   Mar 2009
Title:   Friedreich's ataxia
Publisher:   Better Health Channel
Description:   Friedreich's ataxia is a rare inherited disease of the nervous system characterised by the gradual loss of balance, coordination and muscular control. The affected person is unable to control their muscles, which leads to tremors, an unsteady gait and slurred speech, which may look like being drunk to an outsider observer. There is no cure but the symptoms can be managed with medication and physical therapy.
Date:   Sep 2008
Title:   Thyroid cancer
Publisher:   Better Health Channel
Description:   Four different types of thyroid cancer and one form of lymphoma can occur in the thyroid gland. They are papillary carcinoma, follicular carcinoma, medullary carcinoma, anaplastic carcinoma and thyroid lymphoma. Symptoms vary but may include swelling of the throat, hoarse voice or voice changes, persistent cough and gastrointestinal changes such as diarrhoea or constipation. The most common treatment is surgery.
Date:   Sep 2008
Title:   Prader-Willi syndrome
Publisher:   Better Health Channel
Description:   Prader-Willi syndrome is a rare genetic disorder, which affects development and growth. Characteristics may include short stature, skeletal abnormalities, eye problems, intellectual disability and an insatiable appetite that often leads to obesity. There is no cure but treatments can improve the child's quality of life.
Date:   May 2008
Title:   Williams syndrome
Publisher:   Better Health Channel
Description:   Williams syndrome is a rare genetic disorder. It is characterised by certain physical features and behaviours including a distinctive facial appearance, mild intellectual disability and an overly sociable personality. A person with Williams syndrome is usually outgoing, with no fear of strangers or social interaction.
Date:   Apr 2008
Title:   Genetic testing for inherited cancer
Publisher:   Better Health Channel
Description:   A predisposition to certain cancers can be inherited via altered genes. Genetic testing aims to detect a genetic alteration that might increase the chances of a person developing a particular cancer. This testing is available to some families with a high risk of a genetic predisposition to certain cancers including breast cancer, ovarian cancer and bowel cancer.
Date:   Apr 2008
Title:   Phenylketonuria (PKU)
Publisher:   Better Health Channel
Description:   Phenylketonuria (PKU) is an inherited disorder. It occurs when the body cannot break down a substance in food, called phenylalanine. As phenylalanine builds up in the blood, it causes brain damage. Early detection and intervention with a special diet can prevent intellectual disability and result in normal growth and development.
Date:   Apr 2008
Title:   Pregnancy tests - chorionic villus sampling
Publisher:   Better Health Channel
Description:   Chorionic villus sampling (CVS) is a pregnancy test that checks the baby for some genetic abnormalities such as Down syndrome or cystic fibrosis. A small sample of the placenta is taken via needle and examined in a laboratory. CVS carries a small risk of miscarriage.
Date:   Mar 2008
Title:   Usher syndrome
Publisher:   Better Health Channel
Description:   Usher syndrome is a genetic disorder characterised by the loss of both hearing and vision. Some people also experience problems with balance. There is no cure. Services aim to help the person prepare for and cope with the dual loss of sight and hearing.
Date:   Nov 2007
Title:   Types of family cancer
Publisher:   The Cancer Council Australia
Description:   Lists the several types of family cancer and provides links to further information.
Date:   Oct 2007
Title:   Friedreich's ataxia - myDr.com.au
Publisher:   myDr
Description:   Friedreich`s Ataxia is a slowly progressive disorder of the nervous system and muscles. The disorder, named for the physician who first identified it in the early 1860s, results in inability to coordinate voluntary muscle movements (ataxia).
Date:   Jun 2007
Title:   Breast cancer
Publisher:   The Cancer Council Victoria
Description:   There are several types of breast cancer. Most are not found before they have grown beyond the milk ducts or milk lobules into other breast tissue or out of the breast.
Date:   Feb 2007
Title:   Cancer genetic risk assessment for individuals at risk of familial breast cancer
Publisher:   John Wiley and Sons, Ltd. for The Cochrane Collaboration
Description:   ...
Date:   Feb 2007
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