Obstetrics / Gynecology /PND

• T21, T18, T13 only + info
   
• Thrombocytopenia-absent radius syndrome (TAR, sequence analysis of RBM8A gene) + info
   
• Thrombophilia (c.-4T>C; 46C-T polimorphism on F12 gene) + info
   
• Thrombophilia (factor II G20210A, factor V Leiden R506Q, MTHFR C677T and A1298C) + info
   
• Thrombophilia (factor II G20210A, factor V Leiden R506Q, MTHFR C677T e A1298C, SERPINE1/PAI1 -675 4G/5G and -844A/G) + info
   
• Thrombophilia (mutations on FV Leiden gene) + info
   
• Thrombophilia (p.Trp324* and p.Arg88*mutations on SERPINA10 gene) + info
   
• Thrombophilia (Protrombin, mutations on F2 gene) + info
   
• Thrombophilia (sequence analysis of SERPINA10 gene) + info
   
• Thrombophilia FVII (p.R353Q polimorphism on F7 gene) + info
   
• Thrombophilia markers (factor II G20210A, factor V Leiden R506Q) + info
   
• Thrombophilia markers (MTHFR C677T and A1298C) + info
   
• TOMORROW + info
   
• Treacher-Collins syndrome (deletion/duplication analysis on TCOF1 gene) + info
   
• Treacher-Collins syndrome (sequence analysis of TCOF1 gene) + info
   
• Treacher-Collins syndrome 3 (deletion/duplication analysis on POLR1C gene) + info
   
• Treacher-Collins syndrome 3 (sequence analysis of POLR1C gene) + info
   
• Treacher-Collins syndrome and differential diagnosis (NGS panel of 8 genes) + info
   
• Treacher-Collins syndrome type 2 (sequence analysis of POLR1D gene) + info
   
• Tumoral calcinosis, hyperphosphatemic, familial (sequence analysis of FGF23 gene) + info