Molecular pathology services
The Molecular Pathology section was launched in June 2011 following the selection of the West Midlands Regional Genetics Laboratory as one of three national Technology Hubs involved in testing samples collected for the Cancer Research UK (CR-UK) Stratified Medicine programme. This is an initiative co-ordinated by CR-UK bringing together pharmaceutical and diagnostics companies and the NHS with the vision of providing a national molecular diagnostics service delivering high quality, cost-effective tests for patients.
Stratified medicine, which is now also referred to as personalised or precision medicine, is the classification of tumours based on their genomic profile facilitating better diagnostic and prognostic outcomes and access to relevant targeted therapies.
Testing methodologies include direct sequencing using both next generation (NGS) and Sanger platforms and FISH for specific rearrangements and copy number variation (CNV). The section is also actively involved, through its partnership with industry, in the development of new technologies such as MIP arrays for copy number(CN), loss of heterozygosity (LOH) and somatic mutation (SM) detection from FFPE tissue.
Tests currently available are detailed below. The tests listed have been designed to complement local standard of care testing by incorporating genes tested as part of routine pathology services as well as including those genes linked to specific clinical trials or genes of interest in particular tumour types.
Targeted analysis of single genes in defined tumour or patient cohorts can also be undertaken. If you are interested in this type of analysis please contact the laboratory to discuss your requirements.
| NGS Gene Panel | Company | Number of genes | Local standard of care targets included |
|---|---|---|---|
| CR-UK Panel 2 | Illumina | 28 | Y1,2,3 |
|
AKT1 |
ALK |
BRAF3 |
CCND1 |
CCND2 |
CCND3 |
CCNE1 |
|
CDK2 |
CDK4 |
CDKN2A |
EGFR2 |
FGFR2 |
FGFR3 |
ERBB2 |
|
HRAS |
KRAS1 |
MET |
NF1 |
NRAS1 |
NTRK1 |
PIK3CA |
|
PTEN |
RB1 |
RET |
ROS1 |
STK11 |
TSC1 |
TSC2 |
| FISH Probe | Company | Local standard of care targets included |
|---|---|---|
| ALK | Cytocell | Y2 |
| CDK4 | Cytocell | NA |
| CDKN2A | Cytocell | NA |
| CCND1 | Cytocell | NA |
| MET | Cytocell | NA |
The Molecular Pathology section also offers somatic variant analysis of specific genes listed in the CR-UK NGS Panel 2 for segmental overgrowth, skin lesions, vascular malformation and related syndromes. Examples of indications for testing include primarily non-hereditary sporadic disorders such as:
- Congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi and scoliosis/skeletal/spinal anomalies (CLOVES)
- Epidermal nevi and seborrheic keratoses
- Hemimegalencephaly Klippel-Trenaunay syndrome (KTS)
- Macrocephaly-capillary malformation (M-CM)
- Proteus syndrome
- Schimmelpenning syndrome
For further information on the tests listed above or sample requirements please contact Dr Pauline Rehal (pauline.rehal@nhs.net)