The tests we perform
Molecular Pathology
ASPSCR1-TFE3 RT-PCR)
BCOR-CCNB3 (RT-PCR)
C-MYC gene amplification (FISH)
CIC gene rearrangement (FISH)
DDIT3 (CHOP) gene rearrangement (FISH)
ETV6-NTRK3 (RT-PCR)
EWSR1 gene rearrangement (FISH)
EWSR1-ATF1 type 1 EWSR1-ATF1 type 2, EWSR1-ATF1 type 3 (RT-PCR)
EWSR1-NR4A3 type 1, EWSR1-NR4A3 type 2, EWSR1-NR4A3 type 3 (RT-PCR)
EWSR1-CREB1
(RT-PCR)
EWSR1-CREB3L1 / EWSR1-CREB3L2 (RT-PCR)
EWSR1-CREM (RT-PCR)
EWSR1-ERG (RT-PCR)
EWSR1-FLI1 type1 / EWSR1-FLI1 type 2 /EWSR1-FLI1 type 3 / other rare EWSR1-FLI1 variants (RT-PCR)
EWSR1-WT1 (RT-PCR)
FUS gene rearrangement (FISH)
FUS-CREB3L2/ FUS-CREB3L1 (RT-PCR)
FUS-DDIT3 (RT-PCR)
HEY1-NCOA2 fusion gene (RT-PCR)
JAZF1-SUZ12 (RT-PCR)
JAZF1 gene rearrangement (FISH)
MDM2 gene amplification (FISH)
NAB2-STAT6 (RT-PCR)
NR4A3 gene rearrangement (FISH)
PAX 3-FOXO1 ( RT-PCR)
PAX 7-FOXO1 ( RT-PCR)
SS18 gene rearrangement (FISH)
SS18-SSX1 and SS18-SSX2
(RT-PCR)
TAF2N-NR4A3 (RT-PCR)
USP6 gene rearrangement (FISH)
YWHAE-NUTM2 (RT-PCR)
List of test provided by diagnosis:
Alveolar rhabdomyosarcoma: FOXO1 gene rearrangement (FISH), PAX 3-FOXO1, PAX 7-FOXO1 (FISH and RT-PCR)
Alveolar soft part sarcoma: ASPSCR1-TFE3 (RT-PCR)
Aneurysmal bone cyst: USP6 gene rearrangement (FISH)
Angiomatoid fibrous histiocytoma: EWSR1 gene rearrangement (FISH), EWSR1-CREB1 and EWSR1-ATF1
(RT-PCR)
Angiosarcoma, radiation-induced: C-MYC gene amplification (FISH)
Atypical lipomatous tumour/well differentiated liposarcoma/dedifferentiated liposarcoma:MDM2 gene amplification (FISH)
Clear cell sarcoma: EWSR1 gene rearrangement (FISH), EWSR1-ATF1 type 1 EWSR1-ATF1 type 2, EWSR1-ATF1 type 3, AND EWSR1-CREB1 (RT-PCR)
Desmoplastic small round cell tumour: EWSR1 gene rearrangement (FISH), EWSR1-WT1 (RT-PCR)
Extraskeletal myxoid chondrosarcomas: EWSR1 gene rearrangement (FISH) NR4A3 gene rearrangement (FISH), EWSR1-NR4A3 type 1, EWSR1-NR4A3 type 2, EWSR1-NR4A3 type 3, TAF2N-NR4A3 (RT-PCR)
Ewing sarcoma: EWSR1 gene rearrangement (FISH), EWSR1-FLI1 type1, EWSR1-FLI1 type 2, EWSR1-FLI1 Type 3, EWSR1-ERG and rare variants (RT-PCR)
Ewing-like sarcoma: BCOR-CCNB3 (RT-PCR), CIC gene rearrangement (FISH), CIC-DUX4 (RT-PCR)
Haemangiopericytoma: NAB2-STAT6 (RT-PCR)
High-grade endometrial stromal sarcoma: YWHAE-NUTM2 and other rare variants (RT-PCR)
Intimal sarcoma: MDM2 gene amplification (FISH)
Low-grade endometrial stromal sarcoma: JAZF1 gene rearrangement (FISH), JAZF1-SUZ12 (RT-PCR)
Low-grade fibromyxoid sarcoma/sclerosing epithelioid fibrosarcoma: FUS gene rearrangement (FISH), EWSR1 gene rearrangement, FUS-CREB3L2, FUS-CREB3L1, EWSR1-CREB3L1, EWSR1-CREB3L2(RT-PCR)
Low-grade central osteosarcoma: MDM2 gene amplification (FISH)
Mesenchymal chondrosarcoma: HEY1-NCOA2 fusion gene (RT-PCR)
Myxoid liposarcoma: FUS gene rearrangement (FISH), EWSR1 gene rearrangement, DDIT3 (CHOP) gene rearrangement (FISH), FUS-DDIT3, EWSR1-DDIT3 (RT-PCR
Nodular fasciitis: USP6 gene rearrangement (FISH),
Solitary fibrous tumour: NAB2-STAT6
Paraosteal osteosarcoma: MDM2 gene amplification (FISH)
Synovial sarcoma: SS18 gene rearrangement (FISH), SS18-SSX1 SS18-SSX2
(RT-PCR)
Immunohistochemistry
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