Diagnostic genetic findings and clinical implications
| Patient . | Gene variation . | Inheritance pattern . | Disease association . | Turnaround time (WES) . | Turnaround time (Fast track) . |
|---|---|---|---|---|---|
| 1 | MMACHC (NM_015506.3 c.389A>G) | Autosomal recessive | Methylmalonic aciduria and homocystinuria, cblC type | 26 d | 5 d |
| 2 | CFH (NM_000186.4 : c.1137G>A, p.W379Ter) | Autosomal dominant | Complement factor H deficiency | 38 d | 3 d |
| 3 | CFH/CFHR1 hybrid gene | Autosomal dominant | Complement factor H deficiency | 6 mo | 3 d |
| Patient . | Gene variation . | Inheritance pattern . | Disease association . | Turnaround time (WES) . | Turnaround time (Fast track) . |
|---|---|---|---|---|---|
| 1 | MMACHC (NM_015506.3 c.389A>G) | Autosomal recessive | Methylmalonic aciduria and homocystinuria, cblC type | 26 d | 5 d |
| 2 | CFH (NM_000186.4 : c.1137G>A, p.W379Ter) | Autosomal dominant | Complement factor H deficiency | 38 d | 3 d |
| 3 | CFH/CFHR1 hybrid gene | Autosomal dominant | Complement factor H deficiency | 6 mo | 3 d |
cblC, cobalamin C.