Emphysema

Alpha-1-Antitrypsin deficiency

Gene name Transcript Clinical sensitivity
SERPINA1 ENST00000448921 95% [127]
EFEMP2 (FBLN4)  ENST00000307998   
ELN  ENST00000358929   
FBLN5  ENST00000342058   
LTBP4  ENST00000308370   

All other emphysema genes

Gene name Transcript Clinical sensitivity
SERPINA1 ENST00000448921 95% [127]
EFEMP2 (FBLN4)  ENST00000307998   
ELN  ENST00000358929   
FBLN5  ENST00000342058   
LTBP4  ENST00000308370   

 


Clinical genetics and genomics laboratory

Ground floor (level 2), Sydney wing, Royal Brompton Hospital, Sydney Street, London, SW3 6NP

Telephone: 020 7352 8121 ext. 83009
Email: rbh-tr.genomics@nhs.net or geneticslab@rbht.nhs.uk
Opening hours: Monday to Friday, 9 am - 5 pm
Head of laboratory: Dr Deborah Morris-Rosendahl

Useful documents

Molecular genetic testing request and consent form (pdf, 431KB)

Non-NHS molecular genetic testing request and consent form (pdf, 493KB)

Share