Table 2

Immunoreactive trypsinogen and pancreatitis-associated protein concentrations, CFTR gene mutation analysis and sweat tests in infants with cystic fibrosis detected by newborn screening

	IRT (μg/litre)	PAP (μg/litre)	Mutation 1	Mutation 2	Sweat test chloride (mmol/litre)
1	438	5.3	F508del	F508del	74
2	284	1.8	F508del	F508del	88
3	266	9.8	F508del	F508del	97
4	237	1.8	F508del	F508del	11 and 74
5	197	4.3	F508del	F508del	69
6^*	191	12.6	F508del	C.3889dupT	94
7	164	14.4	F508del	G542X	102
8	129	4.3	F508del	F508del	Failed
9	110	2.2	F508del	F508del	94
10	109	2.0	F508del	F508del	51
11	105	4.4	F508del	F508del	149
12	155	2.6	F508del	F508del	111
13	191	12.6	F508del	F508del	4
14	116	15.8	F508del	F508del	Failed 3 times
15	293	5.7	F508del	2184A	120
16^*	228	15.8	F508del	1294_1300del	99
17	218	4.5	F508del	G85E	99
18	153	4.0	F508del	S1251N	77
19^*	141	15.8	F508del	E730X	82
20^‡	78	0.8	F508del	A455E	65
21^†	114	11.2	F508del	F508del	Failed
22^†	109	0.8	F508del	F508del	78
23^†	93	1.3	F508del	F508del	–
24^†	75	6.7	F508del	F508del	78

↵* Second mutation detected by sequencing.
↵† Infants with meconium ileus (no. 21–24) were excluded from the analysis.
↵‡ This infant was missed with IRT/PAP but detected with IRT/DNA/sequencing.
CF, cystic fibrosis; IRT, immunoreactive trypsinogen; PAP, pancreatitis-associated protein.