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)