Table 2.
Tables resuming the detection rate of MAS-related c.604T and c.605A GNAS activating variants.
| Sanger | AS-PCR | COLD-MAMA PCR | dPCR | |
|---|---|---|---|---|
| A | ||||
| BO | 5/15; 33.3% | 5/10; 50% | 3/3; 100% | 10/15; 66.6% |
| CB/FB | 0/16; 0% | 1/16; 6.25% | 0/2; 0% | 3/16; 18.75% |
| OC/OCL/OT | 1/11; 9% | 4/10; 40% | 7/10; 70% | 10/11; 90.9% |
| BL | 0/37; 0% | 3/33; 9.1% | 2/11; 18.1% | 14/37; 37.8% |
| Patients (overall DR) | 4/54; 7.4% | 9/46; 19.6% | 9/14; 64.3% | 23/54; 42.6% |
| B | ||||
| BO | 0/3; 0% | 3/3; 100% | 3/3; 100% | 3/3; 100% |
| CB/FB | 0/2; 0% | 0/2; 0% | 0/2; 0% | 0/2; 0% |
| OC/OCL/OT | 1/10; 10% | 4/10; 40% | 7/10; 70% | 10/10; 100% |
| BL | 0/11; 0% | 1/11; 9% | 2/11; 18.1% | 6/11; 54.5% |
| Patients (overall DR) | 2/14; 14.3% | 5/14; 35.7% | 9/14; 64.3% | 10/14; 71.4% |
BO, bone; CB/FB, cutaneous biopsy/fibroblasts; OC/OCL/OT, ovarian cyst/ovarian cyst liquid/ovarian tissue; BL, blood; DR, detection rate.
Panel A reports all patients whereas panel B reports only patients tested by all of the four available techniques. Percentages values are highlighted in bold.