Table 2.
Results of AJ Reference Material Characterization Study
| Disorder | Gene | Coriell cell line # | Allele 1 (# labs)* | Allele 2 (# labs)* | Other mutations† (# labs)* |
|---|---|---|---|---|---|
| BS | BLM | GM03403 | 2281Del6/Ins7 (6) | 2281Del6/Ins7 (6) | |
| BS | BLM | GM04408 | 2281Del6/Ins7 (6) | — | |
| CD | ASPA | GM04268 | E285A (6) | E285A (6) | |
| CD | ASPA | GM17821 | E285A (6) | — | |
| CD | ASPA | GM18929 | Y231X (6) | — | |
| CD | ASPA | GM00059 | A305E (4) | — | |
| FA | FACC | GM00449 | IVS4(+4)A>T (6) | IVS4(+4)A>T (6) | |
| FA | FACC | GM12794 | 322DelG (4) | — | |
| FD | IKBKAP | GM05046 | IVS20(+6)T>C (6) | — | |
| FD | IKBKAP | GM05106 | IVS20(+6)T>C (6) | IVS20(+6)T>C (6) | |
| GD | GBA | GM00852 | 84G>GG (6) | N370S (6) | |
| GD | GBA | GM01607 | N370S (6) | V394L (4) | |
| GD | GBA | GM04394 | L444P (6)‡ | — | |
| GD | GBA | GM08752 | L444P (6) | L444P (6) | |
| GD | GBA | GM10870 | N370S (6) | N370S (6) | |
| GD | GBA | GM01031 | IVS2+1G>A (4) | — | |
| GSD | G6PC | GM11215 | Q347X (3) | Q347X (3) | |
| GSD | G6PC | GM11468 | R83C (3) | Q347X (3) | |
| GSD | G6PC | GM11470 | R83C (3) | — | |
| GSD | G6PC | GM11471 | Q347X (3) | — | |
| MLIV | MCOLN1 | GM02528 | IVS3(−2)A>G (6) | IVS3(−2)A>G (6) | Gaucher N370S (5) |
| MLIV | MCOLN1 | GM02533 | IVS3(−2)A>G (6) | Del6.4Kb (6) | |
| NP | SMPD1 | GM00112 | L302P (6) | L302P (6) | |
| NP | SMPD1 | GM03252 | L302P (6) | — | |
| NP | SMPD1 | GM13205 | P330fs (6) | — | |
| NP | SMPD1 | GM16193 | R496L (6) | DelR608 (5) | Gaucher N370S (5) |
| TSD | Hex A | GM03461 | G269S (6) | IVS12(+1)G>C (6) | |
| TSD | Hex A | GM03770 | G269S (6) | 1278insTATC (6) | |
| TSD | Hex A | GM11852 | 1278insTATC (6) | 1278insTATC (6) | |
| TSD | Hex A | GM09787 | IVS9+1G>A (4) | — | |
| TSD | Hex A | GM04863 | 1278insTATC (4) | R247W (4) | Gaucher N370S (3) |
− indicates no mutation detected.
*
Number of labs that detected the mutation = Number of labs that tested for the mutation.
†
Mutations identified unexpectedly during characterization study.
‡
Allele not detected by one LDT, but detected by the same lab using the xTAG reagent.