Test indications and gene panels

Genomic tests are available to both patients within the NHS, as well as patients referred privately or internationally.

The National Genomic Test Directory outlines the full range of genomic tests that are funded by the NHS in England. The Test Directory sets out which tests are available and the patients who are eligible to access a test.

Tests available:

Inherited Cardiac Conditions:

  • Aortopathy and connective tissue genes
  • Arrhythmia
  • Cardiomyopathy
  • Familial hypercholesterolaemia
  • Other cardiac diseases and genes
  • Molecular autopsy (sudden cardiac death, SCD)
  • Noonans syndrome
  • Primary lymphoedema
  • Vasculopathy, including pneumothorax
  • Pulmonary arterial hypertension (PAH)

Inherited Respiratory Conditions

  • Bronchiectasis
  • Respiratory ciliopathies
  • Congenital respiratory conditions
  • Cystic fibrosis (targeted mutation analysis and whole gene sequencing)
  • Emphysema
  • Immunodeficiency
  • Interstitial lung disease (ILD; familial pulmonary fibrosis)
  • Pulmonary alveolar microlithiasis (PAM)
  • Surfactant disease (childhood)

Gene Content of NGS panels

The gene content of Next-Generation Sequencing (NGS) gene panels can be found in PanelApp. The panels in this resource contain the list of genes, short tandem repeats (STRs) and regions (copy number variants/CNVs) that have been approved for use in the NHS in England.

These panels are reviewed and updated through an annual and quarterly evaluation process supported by expert Test Evaluation Working Groups and overseen by the NHS England Genomics Clinical Reference Group.

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 green and amber genes (with diagnostic level of evidence for gene-disease association) in the sub panel/s requested. 

Tests involving Sanger sequencing, MLPA, ddPCR, microsatellite analysis and targeted mutation analysis for the most common pathogenic variants in the CFTR gene for the diagnosis of cystic fibrosis, are also available. 

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, 9am - 5pm

Head of laboratory: Dr Deborah Morris-Rosendahl