Specialty Genomic Tests

Cancer: Solid Tumours

A number of uncommon diagnostic tests will be delivered by specified GLHs within the GLH network.

Those delivered within the NE&Y GLH are shown below. Where these tests are not available within our GLH, please refer samples to your local genomics laboratory who will route these appropriately.

Below are details on how this testing is to be provided in the North East and Yorkshire by our Genomics Laboratory Hub.

Clinical Indication Test Directory Requirements NEY GLH testing
Pseudimyogenic heamangioendothelioma SERPINE1-FOSB FISH/RT-PCR Fusion panel
Endometrial Stromal Sarcoma EPC1-PHF1 FISH PHF1 FISH or fusion panel
Epithelioid hemangioendothelioma WWTR1-CAMTA1 RT-PCR Fusion panel
Mesenchymal chrondrosarcoma HEY1-NCOA2 RT-PCR HEY1-NCOA2 RT-PCR

NCOA2 FISH

DSRCT/round cell sarcoma differential WT1 FISH WT1 FISH

EWSR1-WT1 RT-PCR

Myxoid soft tissue differential TGFBR3-MGEA5 FISH/RT-PCR TGFBR3 FISH or fusion panel
Inflammatory myofibroblastic tumour TPM4-ALK FISH/RT-PCR ALK FISH or fusion panel
Extraskeletal Myxoid chondrosarcoma NR4A3 FISH NR4A3 FISH

EWSR1-NR4A3, TAF15-NR4A3

Endometrial Stromal Sarcoma JAZF1-PHF1 FISH JAZF1/PHF1 FISH or fusion panel
Inflammatory myofibroblastic tumour TPM3-ALK FISH/RT-PCR ALK FISH or fusion panel
Radiation induced angiosarcoma MYC FISH MYC FISH
Clinical Indication Test Directory Requirements NEY GLH testing
Medulloblastoma C19MC FISH C19MC FISH
Glioblastoma CDKN2A FISH CDKN2A FISH
Midline carcinoma NUTM1-BRD2/3/4 FISH/RT-PCR NUTM1 FISH or fusion panel
Midline carcinoma NUTM1-CIC FISH/RT-PCR NUTM1 FISH or fusion panel
Clear cell sarcoma NUTM1/2B/2E-YWHAE FISH/RT-PCR NUTM1/YWHAE FISH
ATRT SMARCB1 FISH SMARCB1 FISH, or sequencing and SNP array – used together for biallelic inactivation detection
Renal cell carcinoma/myxoid TFE3-ASPSCR1/MITF/PRCC FISH/RT-PCR TFE3 FISH
Medulloblastoma YAP1 FISH YAP1 FISH
Oligodendroglioma RB1 FISH RB1 FISH
Pilocytic Astrocytoma BRAF-KIAA1549/KIA1549 FISH/RT-PCR BRAF-KIAA1549 FISH and RT-PCR, and BRAF FISH
Neuroblastoma i17q FISH SNP array and i(17)(q10) FISH
PNET MYC  FISH MYC FISH and SNP array
Neuroblastoma MYCN MYCN FISH and SNP array
WNT medulloblastoma TP53 FISH SNP array and TP53 FISH
Array paediatric brain SNP array
Array paediatric neuroblastoma SNP array
Please send referrals to your local GLH service where they will be routed to the appropriate provider.
Clinical Indication Test Pathway 
Phosphaturic mesenchymal tumour FN1 FISH London North GLH
Giant cell tumour of bone and others H3F3B hotspot Central and South GLH
VHL FISH Central and South GLH

National Genomic Test Directory

The 2020/2021 National Genomic Test Directory for rare and inherited disorders and cancer.

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