CYSTINURIA TYPE 1
Testet das SLC7A9 (analyzed together with SLC3A1) Gen
€ 840
 | |
| Gen | SLC7A9 (analyzed together with SLC3A1) |
| OMIM | 604144 220100 |
| Tat | - |
| Methode | 7 mutations in SLC7A9: Gly105Arg, Thr123Met, Phe140Ser, Ala182Thr, 747delG, 244delE, Arg333Trp includes 10 mutations in SLC3A1: Thr216Met, Ser217Arg, Arg365Trp, Arg365Leu, Arg362Cys, Met467Thr, Met467Lys, 1500+1G/T, Glu483X duplication of exons 5-9 |
| Prenatal | No |
| Order# | PGWD0586 |
