Table 1.
Table of verified UCDS genes and their amplicons. Tier 1 in row 1 is simply a placeholder to show that 60% of DMD/BMD mutations will be detected by the venerable Beggs–Chamberlain multiplex PCR test, which has been in place for 15 years. All remaining rows are UCDS diagnostic testing tiers and indicate the number of amlicons that have been verified up to 11/22/05. The order of testing will be tier 1 first; if no mutations detected in tier 1, then proceed to tier 2, etc. Costs indicate the minimum cost for reagents and plastic only
| Tier/assay (% detected) | Material cost | Gene name | Protein | Phenotype | No. exons | Approx. no. UCDS amplicons | UCDS amplicons verified as of 11/22/05 | UCDS amplicons not covered as of 11/22/05 |
|---|---|---|---|---|---|---|---|---|
| Tier 1 MUX PCR (60%) | $73 | DMD | Dystrophin | DMD/BMD | 21 | MUX PCR | ||
| Tier 2 (85%) | $118 | DMD | Dystrophin | DMD/BMD | 79 | 118 | 118 | 0 |
| Tier 3 (91%) | $100 | CAPN3 | Calpain 3 | LGMD2A | 24 | 33 | 33 | 0 |
| DYSF | Dysferlin | LGMD2B | 55 | 62 | 55 | 7 | ||
| Tier 4 (95%) | $76 | TRIM32 | Tripatate contain 32 | LGMD2H | 3 | 18 | 18 | 0 |
| CAV3 | Caveolin-3 | LGMD1C | 2 | 12 | 12 | 0 | ||
| FKRP | Fukutin related | LGMD21 (CMD) | 4 | 17 | 17 | 0 | ||
| SGCA | Sarcoglycan alpha | LGMD2D | 10 | 11 | 11 | 0 | ||
| SGCB | Sarcoglycan beta | LGMD2E | 6 | 18 | 18 | 0 | ||
| Tier 5 (98%) | $58 | LMNA | Lamin a/c | LGMD1B (EDMD) | 16 | 28 | ||
| TCAP | Telethonin | LGMD2G | 16 | 8 | ||||
| TTID | Myotilin | LGMD1A | 10 | 22 | ||||
| SGCD | Sarcoglycan delta | LGMD2F | 10 | 13 | 13 | 0 | ||
| SGCG | Sarcoglycan gamma | LGMD2C | 8 | 14 | 14 | 0 | ||
| FCMD | Fukutin | FCMD | 10 | 37 | 37 | 0 | ||
| Tier 6 | NEB | Nebulin | Nemalin | 183 | 169 | 134 | 35 | |
| ACTA1 | Skeletal actin | Nemalin | 7 | 11 |