Congenital respiratory conditions

Alveolar capillary dysplasia

Gene name Transcript Clinical sensitivity
FOXF1 ENST00000262426  

Ataxia telangiectasia

Gene name Transcript Clinical sensitivity
ATM ENST00000278616  

Central hyperventilation syndrome

Gene name Transcript Clinical sensitivity
ASCL1 ENST00000266744  
BDNF  ENST00000525528   
EDN3  ENST00000337938   
GDNF  ENST00000427982   
MYO1H  ENST00000310903.5   
NALCN ENST00000251127  
PHOX2B (PMX2B)  ENST00000226382   
RET  ENST00000355710   

Periventricular nodular heteropia and lung

Gene name Transcript Clinical sensitivity
FLNA ENST00000369850  

Primary pulmonary hypoplasia 

Gene name Transcript Clinical sensitivity
ZFPM2 ENST00000407775  

Pulmonary alveolar microlithiasis (PAM)

Gene name Transcript Clinical sensitivity
DICER1 ENST00000526495  
SLC34A2 ENST00000382051  

 


Clinical genetics and genomics laboratory 

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

Telephone: +44(0)207 352 8121, ext 83009
Email: rbh-tr.genomics@nhs.net or geneticslab@rbht.nhs.uk 
Opening hours: Monday to Friday, 9am to 5pm
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)

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