Genetic and genomic tests available

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. 

Tests available:

References

Important

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 Information supplied here may therefore be out of date or incomplete.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

Telephone: 020 7352 8121 ext. 83009
Email: rbh-tr.genomics@nhs.net  or geneticslab@rbht.nhs.uk

Opening hours: Monday to Friday, 9 am - 5 pm

Head of laboratory: Dr Deborah Morris-Rosendahl

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