Table 3

Immunoreactive trypsinogen and pancreatitis-associated protein concentrations, CFTR gene mutation analysis and sweat tests for all infants with an equivocal diagnosis

	IRT (μg/litre)	PAP (μg/litre)	Mutation 1	Mutation 2	Sweat test chloride (mmol/litre)
1	199	1.4	E60X	R117H-7T	36
2	139	0.8	394delTT	R117H-7T/9T	21
3	123	0.6	F508del	R117H-7T	22
4	89	1.4	S1251N	R117H-7T	29
5	79	1.6	F508del	R117H-7T	26
6	77	2.4	R553X	R117H-7T	22
7	76	0.8	F508del	R117H-7T	34
8	73	0.5	F508del	R117H-7T	25
9	70	1.0	F508del	R117H-7T	22
10	69	1.1	F508del	R117H-7T	33
11	67	2.7	F508del	R117H-7T	17
12^*	174	3.8	F508del	L967S	19
13^*	84	3.2	F508del	Q1352H	17

Equivocal diagnosis=two CFTR gene mutations of which one has unclear clinical significance, and a normal or equivocal sweat test result.
↵* Second mutation detected by sequencing.
IRT, immunoreactive trypsinogen; PAP, pancreatitis-associated protein.