Table 1.

Regional variation in referrals for genetic testing for MODY and cases of diabetes with a confirmed diagnosis of MODY from 1 January 1996 to 31 December 2019

		Probands
Country/region	Population	Referrals, n	Referrals/ million	With mutation, n	Positive test rate, %†	Relatives with diabetes with mutation, n	Total cases,* n	Total cases/ million
Scotland	5,463,300	1,369	250.6	265	19.4	178	443	81.1
Wales	3,152,879	255	80.9	69	27.1	60	129	40.9
Northern Ireland	1,893,667	127	67.1	23	18.1	23	46	24.3
England	56,286,961	6,781	120.5	1,724	25.4	1,479	3,203	56.9
English regions
East	6,236,072	571	91.6	154	27.0	145	299	47.9
South East	9,180,135	1,163	126.7	346	29.8	280	626	68.2
South West	5,624,696	1,402	249.3	312	22.3	325	637	113.3
London	8,961,989	1,019	113.7	246	24.1	145	391	43.6
West Midlands	5,934,037	461	77.7	120	26.0	122	242	40.8
East Midlands	4,835,928	393	81.3	115	29.3	99	214	44.3
Yorkshire/Humber	5,502,967	543	98.7	153	28.2	121	274	49.8
North East	2,669,941	448	167.8	92	20.5	59	151	56.6
North West	7,341,196	781	106.4	186	23.8	183	369	50.3
Unknown		5		2		37	39
U.K. total	66,796,807	8,537	127.8	2,083	24.4	1,777	3,860	57.8

Proband referral rates and confirmed cases were calculated per million of regional population.

^*Probands and relatives.

^†Minimum percent positive test rate based on number of probands with mutations identified per all proband referrals for region specified.