Pulmonology/Pneumology

• Achondroplasia | Hypochondroplasia | Thanatophoric dysplasia types I & II | SADDAN dysplasia | Crouzon syndrome with acanthosis nigricans | CATSHL syndrome | LADD syndrome (sequence analysis of FGFR3 gene) + info
   
• Alpha-1 antitrypsin deficiency (deletion/duplication analysis on SERPINA1 gene) + info
   
• Alpha-1 antitrypsin deficiency (sequence analysis of SERPINA1 gene) + info
   
• Alpha-2-macroglobulin deficiency (sequence analysis of A2M gene) + info
   
• Ashkenazi panel (NGS panel of 26 genes) + info
   
• Asphyxiating thoracic dystrophy of the newborn type 3 (deletion/duplication in the DYNC2H1 gene) + info
   
• Ataxia-telangiectasia (deletion/duplication analysis on ATM gene) + info