20th February 2024

Scientists are investigating a new condition that appears to be inherited in an autosomal dominant pattern

Scientists are investigating a new condition that appears to be inherited in an autosomal dominant pattern. They are hoping to identify the best investigation that can be used to help confirm the diagnosis in symptomatic patients. It remains unclear if a monogenetic or polygenetic mutation could cause the condition, but preliminary tests suggest a point mutation or microdeletion may cause this.

Which of the following available genetic tests is likely to be most helpful?

Select the SINGLE most appropriate option from the list below. Select ONE option only.