Available NGS panels can be found on the right hand side or below, with the genes and transcripts included on each subpanel listed. Sequencing data is generated on many genes; but comprehensive bioinformatic analysis, including copy number variant analysis, clinical interpretation and variant confirmation will only be reported on genes in the sub panel/s requested.
Sanger sequencing, MLPA, ddPCR, microsatellite analysis and CF common mutation testing are also available.
- Aortopathy and connective tissue genes
- Familial Hypercholesterolemia
- Other cardiac diseases and genes
- Molecular autopsy (Sudden cardiac death, SCD)
- Congenital respiratory conditions
- Interstitial Lung Disease (ILD)
- Pulmonary hypertension (PH)
Gene panel content, testing strategies and test pricing are currently in the process of being reviewed to align with new National Genomic Test Directory. Information supplied here may therefore be out of date or incomplete.
Please contact the laboratory to receive the most accurate and up to date information.
Clinical genetics and genomics laboratory
Ground floor (level 2), Sydney wing, Royal Brompton Hospital, Sydney Street, London, SW3 6NP
Opening hours: Monday to Friday, 9 am - 5 pm
Head of laboratory: Dr Deborah Morris-Rosendahl