Table 1.
Summary of all methods used by 109 NSQAP participants in the 2024 Quarter 1 PT event.
| Method | Number of U.S. Laboratories | Number of Non-U.S. Laboratories | Targets | Total |
|---|---|---|---|---|
| LDT * Real-Time PCR–SMN1, TREC and reference gene run in a single tube | 21 | 11 | SMN1, TREC, Reference gene * | 32 |
| Revvity Eonis™ SCID-SMA kit | 1 | 21 | SMN1, TREC, RPP30 | 22 |
| Revvity NeoMDxTM RUO | 9 | 3 | SMN1, TREC, RPP30 | 12 |
| ImmunoIVD SPOT-it™ TREC & SMN1 Screening Kit or TREC, KREC, SMN1 Kit | 0 | 13 | SMN1, TREC, beta-actin | 13 |
| LDT Real-Time PCR–SMN1 and reference gene run in a single tube | 3 | 2 | SMN1, Reference gene ** | 5 |
| ZenTech Targeted qPCR SMA | 0 | 6 | SMN1, RPP30 | 6 |
| MRC Holland SALSA MC002 SMA Newborn Screen | 0 | 2 | SMN1 | 2 |
| Trimaris SMA qPCR Tarama Kit | 0 | 3 | SMN1, CFTR | 3 |
| MALDI-TOF/MicroArray | 0 | 2 | SMN1, H9 | 2 |
| Others | 0 | 12 | SMN1, Reference gene *** | 12 |
* Reference gene (number of labs): RPP30 (20), RPPH1 (7), beta-actin (4), hemoglobulin subunit HPP (1). ** Reference gene (number of labs): RPP30 (3), beta-actin (1), beta-globulin (1). *** Reference gene (number of labs): RPP30 (3), beta-globulin (3), RPPH1 (2), beta-actin (2), SMN2 exon 8 (1), chymotrypsin (1).