Multigen-Diagnostik
Loeys-Dietz-Syndrom
| Gen | Erbgang | OMIM | Locus |
|---|---|---|---|
| TGFBR2 | AR | 190182 | 3p24.1 |
| SMAD3 | AD | 603109 | 15q22.33 |
| TGFB2 | AD | 190220 | 1q41 |
| TGFB3 | AD | 190230 | 14q24.3 |
| TGFBR1 | AR | 190181 | 9q22.33 |
Methodik
Next-Generation-Sequencing (NGS)
Sanger-Sequenzierung
Dauer
2 - 4 Wochen