Interstitial Lung Disease (ILD)

Childhood ILD (ChILD)

Gene name Transcript Clinical sensitivity
ABCA3 ENST00000301732  
CSF2RA ENST00000381524  
CSF2RB ENST00000403662  
ITCH ENST00000262650  
MARS1 ENST00000262027  
NKX2-1 (TTF1/TITF1)  ENST00000354822   
SFTPA1  ENST00000398636   
SFTPA2  ENST00000372325   
SFTPB  ENST00000342375   
SFTPC  ENST00000318561   
STRA6  ENST00000323940   

Hermansky-Pudlak Syndrome

Gene name Transcript Clinical sensitivity
AP3B1 ENST00000255194  
BLOC1S3  ENST00000433642   
BLOC1S6  ENST00000220531   
DTNBP1  ENST00000344537   
HPS3  ENST00000296051   
HPS4  ENST00000398145   
HPS5  ENST00000349215   
HPS6  ENST00000299238   

Familial Pulmonary Fibrosis

Gene name Transcript Clinical sensitivity
ABCA3 ENST00000301732  
ABCA6 ENST00000284425  
CSF2RA  ENST00000381524   
CSF2RB  ENST00000403662   
DKC1  ENST00000369550   
DSP  ENST00000379802   
FLG  ENST00000368799   
HPS1  ENST00000325103   
ITGA3  ENST00000320031   
MUC5B (incl rs35705950 risk allele)  ENST00000529681   
Naf1 ENST00000274054  
NKX2-1 (TTF1/TITF1)  ENST00000354822   
NOTCH2 ENST00000256646  
PARN  ENST00000437198   
RTEL1  ENST00000360203   
SFTPA1  ENST00000398636   
SFTPA2  ENST00000372325   
SFTPB  ENST00000342375   
SFTPC  ENST00000318561   
SFTPD  ENST00000372292   
STRA6  ENST00000323940   
TERC  ENST00000602385   
TERT (incl promotor mut)  ENST00000310581   
TINF2 ENST00000267415  
TLR2  ENST00000260010   
TLR3  ENST00000296795   
TLR4  ENST00000355622   
TLR9  ENST00000360658   

Tuberous Sclerosis

Gene name Transcript Clinical sensitivity
TSC1 ENST00000298552  
TSC2 ENST00000219476   

 


Clinical genetics and genomics laboratory 

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

Telphone: +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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