• Diagnostic evaluation
• Management of inborn errors of metabolism, skeletal dysplasia, or lysosomal storage diseases
• A prenatal genetics clinic to discuss risks to the pregnancy (advanced maternal age, teratogen exposure, family history of a genetic disease), test results (abnormal maternal serum screen, abnormal ultrasound), and/or options for prenatal diagnosis (typically amniocentesis or chorionic villus sampling)
• Support of a clinical geneticist or genetic counselor (cancer genetics, cardiovascular genetics, craniofacial or cleft lip/palate, hearing loss clinics, muscular dystrophy/neurodegenerative disorder clinics)

Genetic counselling is the process of providing information about genetic conditions, diagnostic testing, and risks in other family members, within the framework of nondirective counselling. Our genetic counsellors guide in family risk assessment and counseling of patients regarding genetic disorders.

Each patient will undergo a diagnostic evaluation tailored to their own particular presenting signs and symptoms. The geneticist will establish a differential diagnosis and recommend appropriate testing.

1. Chromosome Studies

Chromosome studies are used in the general genetics clinic to determine a cause for developmental delay/mental retardation, birth defects, dysmorphic features, and/or autism. Chromosome analysis is also performed in the prenatal setting to determine whether a foetus is affected with aneuploidy or other chromosome rearrangements. Finally, chromosome abnormalities are often detected in cancer samples. A large number of different methods have been developed for chromosome analysis:

• Karyotype
• Fluorescence in situ hybridization (FISH)
• Array comparative genomic hybridization.

2. Basic Metabolic Studies

Biochemical studies are performed to screen for imbalances of metabolites in the bodily fluid, usually the blood (plasma/serum) or urine, but also in cerebrospinal fluid (CSF). Specific tests of enzyme function (either in leukocytes, skin fibroblasts, liver, or muscle) are also employed under certain circumstances.

3. Molecular Studies

• DNA sequencing
• DNA Methylation Analysis
• Next Generation Sequencing