Table 2. Genetic mutation profile of children in sample and the test status of parents.
| Genetic mutation combination | Number of children | Both parents tested | Mother only tested | Father only tested | Neither parent tested |
|---|---|---|---|---|---|
| p.F508del/p.F508del | 20 | 9 | 1a | 1 | 9 |
| p.F508del/c.489+1G>T | 3 | 2 | 1b | 0 | 0 |
| p.F508del/p.G542X | 1 | 1 | 0 | 0 | 0 |
| p.F508del/p.G551D | 2 | 2 | 0 | 0 | 0 |
| p.F508del/p.N1303K | 2 | 2 | 0 | 0 | 0 |
| p.F508del/unknownc | 1 | 1 | 0 | 0 | 0 |
| p.I507del/unknownc | 1 | 1 | 0 | 0 | 0 |
a
No test data for father.
b
The mother was found to carry the c.489+1G>T mutation.
c
Only relatives of the parent for whom the mutation was detectable were included in this study of uptake of carrier testing.