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Can we help you with any other genetic issues or questions?
Of course, we are happy to assist you with any questions you might have about any other genetic issues.
Should you wish to register interest in an online genetic consultation regarding any other genetic issues, we kindly ask you to to make an online enquiry here and to send us a
- completed questionnaire on any other genetic issue, all available medical reports/documents/examination results, including histological findings (histology report).
More about Clinical Genetics:
Clinical genetics is the practice of clinical medicine, with particular attention to hereditary disorders. Physicians who specialise in clinical genetics, also known as clinical geneticists, provide comprehensive diagnostic, management, and genetic consultation services for patients with, or at risk for, genetically influenced health problems. Each patient will undergo a diagnostic evaluation tailored to their own particular presenting signs and symptoms.
The clinical geneticist will establish a differential diagnosis and recommend appropriate testing.
Diagnostic testing occurs when an individual is showing signs or symptoms associated with a specific condition. Genetic testing can be used to arrive at a definitive diagnosis in order to provide a better prognosis as well as medical management and/or treatment options. Testing can reveal conditions that can be mild or asymptomatic with early treatment, as opposed to debilitating without treatment (such as phenylketonuria). Genetic tests are available for a number of genetic conditions and hereditary disorders – and establishing a genetic diagnosis can provide information to other at-risk individuals in the family.
Any reproductive risks (e.g., a chance to have a child with the same diagnosis) can also be explored after a diagnosis. Many disorders cannot occur unless both the mother and father pass on their genes, such as cystic fibrosis; this is known as autosomal recessive inheritance. Other autosomal dominant diseases can be inherited from one parent, such as Huntington disease and DiGeorge syndrome. Yet other genetic disorders are caused by an error or mutation occurring during the cell division process (e.g., aneuploidy) and are not hereditary.
Screening tests are often used prior to diagnostic testing, designed to separate people according to a fixed characteristic or property, with the intention of detecting early evidence of disease. For example, if a screening test during a pregnancy (such as maternal blood screening or ultrasound) reveals a risk of a health issue or genetic condition, patients are encouraged to receive genetic consultation or counselling to learn additional information regarding the suspected condition. A discussion of the management, therapy, and treatments available for the conditions may take place; the next step may differ depending on the severity of the condition and range from during pregnancy to after delivery. Patients may decline additional screening and testing, elect to proceed to diagnostic testing, or pursue further screening tests to refine the risk during the pregnancy.
Presymptomatic or predictive testing occurs when an individual knows of a specific diagnosis (typically adult onset) in their family and has other affected relatives, but they themselves do not manifest any clinical findings at the time when they seek testing. The decision about whether or not to proceed with presymptomatic testing should entail a thoughtful approach and consideration of various medical, reproductive, social, and financial factors, with no “right” or “wrong” answer. The availability of treatment and medical management options for each specific diagnosis, as well as the genetics and inheritance pattern of the particular condition, should be reviewed, as inherited conditions can have reduced penetrance.
