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 indications

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

R208 Inherited Breast and Ovarian Cancer [pdf] 186KB

 

Inherited colorectal cancer (with or without polyposis)

R209

R209 Inherited colorectal cancer (with or without polyposis) [pdf] 181KB

 

Inherited MMR deficiency (Lynch syndrome)

R210

R210 Inherited MMR deficiency (Lynch syndrome) [pdf] 199KB

 

Inherited polyposis - germline test

R211

R211 Inherited polyposis - germline test [pdf] 179KB

 

Peutz Jegher Syndrome

R212

R212 Peutz Jegher Syndrome [pdf] 178KB

 

PTEN Hamartoma Tumour Syndrome

R213

R213 PTEN Hamartoma Tumor Syndrome [pdf] 216KB

 

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

R215 CDH1-related cancer syndrome [pdf] 213KB

 

Li Fraumeni Syndrome

R216

R216 Li Fraumeni Syndrome [pdf] 177KB

 

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

R359 Childhood solid tumours [pdf] 181KB

 

Inherited renal cancer

R224

R224 Inherited renal cancer [pdf] 198KB

 

Von Hippel Lindau syndrome

R225

R225 Von Hippel Lindau syndrome [pdf] 177KB

 

Familial melanoma

R254

R254 Familial melanoma [pdf] 179KB

 

Inherited predisposition to GIST

R363

R363 Inherited predisposition to GIST [pdf] 201KB

 

DICER1-related cancer predisposition

R364

R364 DICER1-related cancer predisposition [pdf] 177KB

 

Fumarate hydratase-related tumour syndromes

R365

R365 Fumarate hydratase-related tumour syndromes  [pdf] 179KB

 

Inherited pancreatic cancer

R367

R367 Inherited pancreatic cancer [pdf] 177KB

 

Schwannomatosis

R393

R393 Schwannomatosis [pdf] 180KB

Endocrinology

Endocrine neoplasia

R217

Test exported

 

Inherited phaeochromocytoma and paraganglioma

R223

R223 Inherited phaeochromocytoma and paraganglioma [pdf] 183KB

 

Multiple endocrine neoplasia type 2

R218

R218 Multiple endocrine neoplasia type 2 [pdf] 229KB

 

Inherited parathyroid cancer

R226

Test exported

Neurology

Neurofibromatosis type 2

R221

Test exported

 

Neurofibromatosis type 1

R222

Test exported

 

Tuberous sclerosis

R228

R228 Tuberous Sclerosis  [pdf] 180KB

 

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.

[1]https://www.england.nhs.uk/wp-content/uploads/2018/08/Rare-and-Inherited-Disease-Eligibility-Criteria-November-2020-21.pdf