Table 2.

Description of the Flagships

Name of ‘Flagship condition’	Description	Test type	Number of genes	Number tested	Clinical disciplines
Childhood syndromes	Children (average age 2.5 years) with features suggestive of a single gene disorder.	Germline	2820	142	Medical genetics^a
Childhood syndromes					Neonatology
					Paediatrics
Inherited neuropathies	Adults, adolescents and children with a clinical diagnosis of Charcot–Marie–Tooth disease, a group of inherited neuropathies with a broad range of phenotypes, inheritance patterns and causative genes.	Germline	55	50 (25 paediatric 25 adult)	Paediatric neurology^a
				50 (25 paediatric 25 adult)	Adult neurology
					Medical genetics
hCRC	Adults with personal and/or family history meeting criteria for inherited syndromes causing colorectal cancer.	Germline	17	35	Gastroenterology^a
					Medical genetics
					Oncology
Focal epilepsy	Adults, adolescents and children with focal epilepsy in the absence of a structural brain lesion or past history suggestive of previous brain insult	Germline	59	41 (12 paediatric 29 adult)	Adult neurology^a
				41 (12 paediatric 29 adult)	Paediatric neurology
					Medical genetics
AML	Patients with AML aged 70 or younger where the clinician considers that additional genomic testing may assist in understanding prognosis and/or contribute information for future treatment decisions.	Somatic	12	45 (11 paediatric, 34 adult)	Adult haematology^a Paediatric oncology

hCRC hereditary colorectal cancer, AML acute myeloid leukaemia

^a Clinical discipline of the flagship leader