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)