Rare Disease Solid Cancer Genomic testing
There are 29 Clinical Indications included in the Rare Disease National Genomics Test Directory for solid cancer predisposition disorders [1]. For each of the clinical indications listed below testing is provided by between 3 and 7 Genomic Laboratory Hubs across England, dependent upon whether it is considered to be a specialist or core test.
WMRGL provides local, regional and national testing as well as an export service for the clinical indications listed below:
|
Clinical Indication Category |
Clinical Indication |
Directory Code |
Link for further test details |
|---|---|---|---|
|
Inherited Cancer |
Inherited ovarian cancer (without breast cancer) |
R207 |
R207 Inherited ovarian cancer (without breast cancer) [pdf] 195KB |
|
|
Inherited breast cancer and ovarian cancer |
R208 |
|
|
|
Inherited colorectal cancer (with or without polyposis) |
R209 |
R209 Inherited colorectal cancer (with or without polyposis) [pdf] 181KB |
|
|
Inherited MMR deficiency (Lynch syndrome) |
R210 |
|
|
|
Inherited polyposis - germline test |
R211 |
|
|
|
Peutz Jegher Syndrome |
R212 |
|
|
|
PTEN Hamartoma Tumour Syndrome |
R213 |
|
|
|
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome |
R214 |
R214 Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome [pdf] 198KB |
|
|
CDH1-related cancer syndrome |
R215 |
|
|
|
Li Fraumeni Syndrome |
R216 |
|
|
|
Retinoblastoma |
R219 |
Test exported |
|
|
Wilms tumour with features suggestive of predisposition |
R220 |
R220 Wilms tumour with features suggestive of predisposition [pdf] 189KB |
|
|
Familial rhabdoid tumours |
R358 |
Test exported |
|
|
Childhood solid tumours |
R359 |
|
|
|
Inherited renal cancer |
R224 |
|
|
|
Von Hippel Lindau syndrome |
R225 |
|
|
|
Familial melanoma |
R254 |
|
|
|
Inherited predisposition to GIST |
R363 |
|
|
|
DICER1-related cancer predisposition |
R364 |
|
|
|
Fumarate hydratase-related tumour syndromes |
R365 |
R365 Fumarate hydratase-related tumour syndromes [pdf] 179KB |
|
|
Inherited pancreatic cancer |
R367 |
|
|
|
Schwannomatosis |
R393 |
|
|
Endocrinology |
Endocrine neoplasia |
R217 |
Test exported |
|
|
Inherited phaeochromocytoma and paraganglioma |
R223 |
R223 Inherited phaeochromocytoma and paraganglioma [pdf] 183KB |
|
|
Multiple endocrine neoplasia type 2 |
R218 |
|
|
|
Inherited parathyroid cancer |
R226 |
Test exported |
|
Neurology |
Neurofibromatosis type 2 |
R221 |
Test exported |
|
|
Neurofibromatosis type 1 |
R222 |
Test exported |
|
|
Tuberous sclerosis |
R228 |
All patients’ samples should be sent to WMRGL. DNA will be extracted and testing will either take place in WMRGL or DNA will forwarded to the allocated provider according to NHS England’s routing instructions.