General Genetics Assessments (Adult and Pediatric)

General Adult   

A general adult genetic assessment includes the study and assessment of genetic factors, including personal and family history, that influence health and disease in adults. This includes neurological conditions, kidney diseases, or cardiovascular (heart) diseases. If eligible the patient will meet with our Genetic Counselors to discuss their personal and family history. Patients may be offered genetic testing to identify genetic variations which can explain the underlying cause of a certain condition and/or predispositions to conditions. Understanding adult genetics helps in understanding your personal risk assessment, disease prevention strategies, and targeted treatment approaches tailored to your individual genetic profile.   

Some common indications seen in our clinic include:  

  • Hereditary heart disease  

  • Hereditary Kidney Disease (Polycystic Kidney Disease, Alport syndrome)  

  • Ocular Diseases  

  • Diabetes (MODY)  

  • Inherited neurological disorders  

Indications not seen in our clinic:  

  • Hemochromatosis (recommend referral to hematology)  

  • Predictive testing for Alzheimer's (unless there is a known family variant)  

  • Metabolic conditions (including alpha-1-antitrypsin)  

For Patients  

Preparing for Your Appointment  

Our assessment relies on detailed personal and family history information. The more information you can provide us prior to your appointment or have readily available at the time of your appointment, the more accurate and efficient your assessment will be. For some patients records on their relatives or themselves may be needed from other hospitals. A consent for Release of Information may be needed to arrange for these records to be sent to Lakeridge before any testing is considered.   

For Providers 

Referrals  

When referring to our clinic, include all pertinent medical information including, but not limited to, previous test results, imaging and consult notes. If indicated, please also provide all available details about the family history.   

 

Pediatrics   

General pediatric genetics involves the study and evaluation of genetic disorders and conditions that affect infants, children, and adolescents. A Pediatric genetic assessment is completed to diagnose inherited disorders through genetic testing and family counseling. This includes discussion about the implications of the genetic conditions for their child's health and development. Treatment plans often focus on managing symptoms, providing supportive care, and offering genetic counselling to families regarding recurrence risk and family planning decisions.  

Indications commonly seen:  

  • Intellectual disability, Global Developmental Delay, Autism Spectrum Disorder  

  • Birth differences, dysmorphology, poor growth  

  • Family history of genetic disorder  

Preparing for your Appointment  

Our assessment relies on detailed personal (including pregnancy, birth, early development) and family history information. The more information you can provide us prior to your appointment or have readily available at the time of your appointment, the more accurate and efficient your assessment will be.  

Genetic testing may be arranged at the time of your appointment. Genetic testing can be performed on blood, saliva, cheek swab or skin biopsy. The specific test and the testing lab location will determine the sample type.   

What to include in the referral:  

  • Consult Notes from any specialists who have been involved in care. 

  • Previous testing including blood work, metabolic screening, microarray and fragile X if indicated (referrals without baseline testing will be declined)  

  • Supporting documents for referral reason (i.e. growth charts, imaging)  

Helpful Resources