Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous benign tumors in vital organs, such as skin, brain, kidneys among others. Common clinical indications of TSC include, but are not limited to: Skin Patches of white- or light-coloured skin (Hypomelanotic macules) Oval-shaped skin lesions (Shagreen ...

Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s Disease, is a late-onset and rapidly-progressing neurodegenerative disease.1 Most cases of ALS appear in individuals with no family history of ALS, referred to as sporadic. The mean age of onset of sporadic ALS is 56 years of age. ...

In March 2019, the Clinical Pharmacogenetics Implementation Consortium (CPIC) published a new guideline concerning CYP2D6 and atomoxetine, a non-stimulant medication used in the treatment of some people with attention-deficit/hyperactivity disorder. Currently, this drug is included in the TreatGx pharmacogenetic report and precision prescribing software, and we provide relevant information to ...

Earlier this month, the BC Prenatal Genetic Screening Program announced a change to their Down syndrome positive screen cut-off of Sequential Integrated Prenatal Screening (SIPS) and QUAD screens. This change will improve the detection rate of Down syndrome and allow more women to qualify for provincially funded Non-Invasive Prenatal Testing ...