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:

WMRGL Respiratory services

WMRGL Respiratory services
Test Code Clinical Indication Target-Method
R190.1 Pneumothorax Familial -Primary Spontaneous Pneumothorax

Small panel

Genes analysed:
R190.2 Pneumothorax Familial -Primary Spontaneous Pneumothorax Exon level CNV detection