Respiratory Genomic Testing
The complete list of the Clinical Indications for respiratory-associated rare disorders can be found in the National Genomics Test Directory. Testing is distributed to several Genomic Laboratory Hubs across England. WMRGL provides local, regional and national testing for the clinical indication below.
All patients’ samples should be sent to WMRGL; DNA will be extracted, and testing will either take place in WMRGL or DNA will be forwarded for Whole Genome Sequencing or to our allocated provider according to NHS England’s instructions.
Please check the Test Directory eligibility criteria before your request a test.
Referral forms can be found here and for turnaround times please check here
If further information is needed, please contact: bwc.RGLRareDiseaseTeam@nhs.net
WMRGL Respiratory services
| Test Code | Clinical Indication | Target-Method |
|---|---|---|
| R190.1 | Pneumothorax Familial -Primary Spontaneous Pneumothorax |
Small panel Genes analysed: https://nhsgms-panelapp.genomicsengland.co.uk/panels/105/v3.0 |
| R190.2 | Pneumothorax Familial -Primary Spontaneous Pneumothorax | Exon level CNV detection |