Additional Reference Samples
| Gene Symbol and Mutations Tested |
| |
CFTR
ACMG Panel and S1235R |
MTHFR
C677T |
HFE
H63D, S65C
C282Y |
F2
G20210A |
F5
R506Q |
HBB
HbS; HbC |
| GM16028 |
None; 7T/7T |
C677T1/WT |
S65C/WT |
G20210A/WT |
R506Q/WT |
None |
| GM07441 |
3120+1G>A1/621+1G>T1 7T/9T1 |
C677T/WT |
None |
None |
None |
None |
| GM16266 |
None; 7T/7T |
None |
None |
None |
None |
HbS/HbC1 |
| GM13591 |
DeltaF5081/R117H1
M470V2/5T/9T1 |
C677T/WT |
H63D/H63D |
None |
None |
None |
| GM16000 |
None; 7T/7T |
C677T/WT |
H63D/WT |
G20210A1/G20210A1 |
None |
None |
| GM14641 |
None; 7T/7T |
None |
C282Y/H63D |
None |
R506Q1/WT |
None |
1Mutation clinically confirmed by testing by at least five laboratories, using at least two molecular methods
2Mutation/variant detected during additional clinical testing |
|
