Table 3.
Alleles Identified by Assay Method
| Disorder | Allele | xTAGassay | LDT1† | LDT2† | LDT 3†GSDonly |
|---|---|---|---|---|---|
| BS | 2281del6/ins7 | + | + | + | |
| CD | E285A | + | + | + | |
| CD | A305E | + | NT | + | |
| CD | Y231X | + | + | + | |
| CD | 433(−2)A>G(IVS2-2) | ND | ND | ND | |
| FA | IVS4(+4)A>T | + | + | + | |
| FA | 322delG | + | NT | NT | |
| FD | IVS20+6T>C(2507+6T>C) | + | + | + | |
| FD | R696P | ND | ND | ND | |
| GD | N370S | + | + | + | |
| GD | 84GG (1035insG) | + | + | + | |
| GD | L444P | + | + | + | |
| GD | IVS2+1G>A | + | NT | + | |
| GD | R496H | ND | NT | ND | |
| GD | D409H | ND | NT | NT | |
| GD | V394L | + | NT | NT | |
| GD | del55bp | ND | NT | NT | |
| MLIV | IVS3-2A>G | + | + | + | |
| MLIV | del6434(ex1-7) | + | + | + | |
| NP | R496L | + | + | + | |
| NP | fsP330 | + | + | + | |
| NP | L302P | + | + | + | |
| NP | delR608 | + | + | NT | |
| TSD | 1278+TATC | + | + | + | |
| TSD | IVS12+1G>C | + | + | + | |
| TSD | G269S | + | + | + | |
| TSD | IVS9(+1)G>A | + | NT | + | |
| TSD | R247W | + | NT | + | |
| TSD | R249W | ND | NT | ND | |
| TSD | Del7.6kb | ND | NT | ND | |
| TSD | IVS7+1G>A | ND | NT | ND | |
| GSD | R83C | NT | + | + | + |
| GSD | Q347X | NT | + | + | + |
LDT, laboratory - developed test; NT, allele not included in assay, or not tested; ND, allele included in assay but not detected in samples.
+Allele detected.
†
Assay performed by one laboratory.