Quick, concise information to help healthcare professionals make the right genomic decisions at each stage of a clinical pathway
Focused on the point of patient care, these short scenarios look at when to consider genomic testing and what you need to do.
Extend your learning with this encyclopaedia of resources, designed to support your understanding of genomics in medicine
Leber hereditary optic neuropathy is an inherited form of vision loss that typically presents in one eye first, with the second eye becoming affected within months.
Presymptomatic genomic testing (also called predictive testing) can be requested for individuals who present with a family history of a genetic condition but do not yet show any signs or symptoms.
Mitochondrial DNA testing is a targeted genomic testing technique that looks for common causes of primary mitochondrial conditions.
Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a progressive neuromuscular condition usually inherited along the maternal line.
Limb girdle muscular dystrophy is the term for a group of rare conditions that cause weakness and wasting of the muscles in the arms and legs, especially the shoulders, upper arms, pelvic area and thighs.