Genetic Screening

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

Reviewed February 2011

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35 Resources Found

Results 1 to 20 displayed.     1  2 

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:   Nov 2011
Title:   Family cancer clinics in Australia
Publisher:   The Cancer Council Australia
Description:   Cancer Council Australia provides information about genetic testing for family cancer at family cancer clinics in Australia.
Date:   Sep 2011
Title:   Genetic testing for family cancer
Publisher:   The Cancer Council Australia
Description:   Cancer Council Australia provides information about genetic testing for family cancer.
Date:   Sep 2011
Title:   Family cancers
Publisher:   The Cancer Council Australia
Description:   Cancer Council Australia provides information about family cancers, occuring by chance, common environmental and lifestyle influences, or inherited faulty gene.
Date:   Sep 2011
Title:   Types of family cancers
Publisher:   The Cancer Council Australia
Description:   Cancer Council Australia provides information about types of family cancers including BRCA1 and BRCA2, Melanoma and other types inherited as faulty genes.
Date:   Sep 2011
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:   Jul 2011
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:   Jun 2011
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:   Jun 2011
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:   Jun 2011
Title:   Newborn screening for homocystinuria
Publisher:   John Wiley and Sons, Ltd. for The Cochrane Collaboration
Description:   Homocystinuria is a rare condition caused by mistakes in a gene that is responsible for making an enzyme called cystathionine beta synthase (CBS). People with homocystinuria have a deficiency of this enzyme and as a result have high levels of a substanc...
Date:   Jun 2011
Title:   Computer-assisted versus oral-and-written family history taking for identifying people with elevated risk of type 2 diabetes mellitus
Publisher:   John Wiley and Sons, Ltd. for The Cochrane Collaboration
Description:   We know that diabetes runs in families. For this reason, healthcare professionals routinely take family histories to help them identify people who are at high risk of developing diabetes. Patient histories may be recorded manually by using oral-and-wri...
Date:   Jun 2011
Title:   Testing for HFE-related haemochromatosis
Publisher:   Australian Prescriber
Description:   HFE-haemochromatosis is a genetic disorder resulting from mutations of the HFE gene. It primarily affects people of Northern European descent. Clinical manifestations result from the progressive deposition of iron into various organs including the liver.
Date:   Jun 2011
Title:   Prader-Willi syndrome
Publisher:   Better Health Channel
Description:   Prader-Willi syndrome is a rare genetic disorder that affects development and growth. Characteristics may include short stature, skeletal abnormalities, eye problems, intellectual disability and excessive eating, which often leads to obesity. There is no cure, but treatments can improve the child's quality of life.
Date:   May 2011
Title:   Phenylketonuria (PKU)
Publisher:   Better Health Channel
Description:   Phenylketonuria (PKU) is a genetic 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:   May 2011
Title:   BRCA testing for familial breast cancer
Publisher:   Australian Prescriber
Description:   Mutations in the BRCA1 and BRCA2 genes are associated with hereditary breast and ovarian cancer. Genetic testing is available in specialised laboratories, but is expensive and presents a significant technical and interpretative challenge.
Date:   Apr 2011
Title:   Family cancer centres
Publisher:   The Cancer Council Victoria
Description:   Melbourne has 4 family cancer centres. A visit is free and confidential. Interpreters are available. Services include testing, medical advice, counselling and support.
Date:   Mar 2011
Title:   Clinical Utility of Personalised Medicine
Publisher:   National Health and Medical Research Council
Description:   Personalised medicine is the capacity to predict disease development and influence decisions about lifestyle choices or to tailor medical practice to an individual. This includes targeted drugs and treatments based on a detailed understanding of the genetic bases of disease.
Date:   Jan 2011
Title:   Genetic testing for hereditary diseases
Publisher:   Virtual Medical Centre.com
Description:   Introduction to genetics Types of genetic testing Methods and techniques used in genetic testing Advantages of genetic screening Disadvantages of genetic testing Ethical issues associated with genetic t
Date:   Oct 2010
Title:   Von Willebrand Disorder
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 2010
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:   May 2010

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