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)
