Table 3.
Transplant candidates tested with KidneySeq
| Case | Clinical diagnosis | Result | Genotype | Genetic diagnosis |
|---|---|---|---|---|
| 1 | ADPKD | Positive | PKD1—NM_000296:c.7866C>G, p.Tyr2622Stop | ADPKD |
| 2 | Alport syndrome/FSGS | Positive | COL4A5—NM_000495:c.3604+1G>A | Alport syndrome |
| 3 | ADPKD | Positive | PKD1—NM_000296:c.11488_11489insGCGACC | ADPKD |
| 4 | CKD | No finding |
This table shows clinical diagnosis and genotype findings for the four transplant candidates tested in this pilot study. ADPKD, autosomal dominant polycystic kidney disease; CKD, chronic kidney disease; FSGS, focal segmental glomerulosclerosis.