Provides genetic assessment, screening, diagnosis and counselling to Albertans across the lifespan who are at risk or affected with inherited cardiac and connective tissue conditions.The consultation service begins with an assessment of a patient's personal and family history for features of a suspected condition. Patients being evaluated for a personal or family history of a connective tissue disease may have a physical examination with a physician (Geneticist) . Genetic counselling is then provided to patients to communicate genetic risk information, explore options for genetic testing (if indicated), and discuss the benefits, risk, limitations of genetic testing for the patient and/or at risk relatives.
Examples of inherited cardiac conditions include long QT syndrome, hypertrophic cardiomyopathy, and many others. Examples of connective tissue disease include aortopathies, Marfan syndrome and Ehtlers Danlos syndrome (other than hypermobile Ehlers Danlos syndrome).
For the diagnosis or management of a cardiac condition, patients should be referred to cardiology.
Please refer pregnant patients to the Prenatal Genetics Clinic.
If your patient is admitted and will remain admitted, please consider calling the inpatient genetics consult service.
In-patient consultation services are provided at all tertiary hospitals in Calgary. Please call the Alberta Children’s Hospital Switchboard and ask to speak to the Medical Geneticist on-call.
Referrals for a family history of a genetic condition require the following information:
- Relationship to the affected family member
- Outline the genetic testing that has been completed in the affected family member (if possible, attach a copy of the relative’s genetic test report or Family Letter)
- If no genetic testing has occurred in the family, genetic testing may not be available to an unaffected family member. Please provide your patient with this resource: Genetic testing: When your family member has a genetic condition
Your patient may be asked to complete a Family History Questionnaire and/or ask a relative to sign a Release of Information form for review of relevant records. Depending on the reason for referral, a referral may be declined as incomplete if your patient does not return the requested information. This occurs when an accurate assessment cannot be made without the additional information.
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