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 |
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