A Powerful New Pairing for Sarcoma Diagnosis

NGS-based Sarcoma Fusion Profiles and FISH work together for more precise answers and more resolved cases

Morphology and IHC may not always be sufficient to diagnose and classify sarcomas. Molecular identification of chromosomal translocations can be the key to solving difficult differential diagnoses, classifying variants for proper therapy, and identifying rare subtypes.  

Our suite of NGS-based Sarcoma Fusion Profiles and stand-alone FISH tests expedites the diagnostic process and expands its reach for common and uncommon subtypes.

Sarcoma Fusion Profiles

  • Are cost-effective due to multiplexed, simultaneous detection of multiple gene fusions 
  • Have broad coverage to detects translocations for which FISH is not available
  • Identify both genetic partners in a gene fusion for better prognostic assessment and therapy selection
  • Eliminates need for reflex testing from one FISH to another so diagnoses are ready sooner
  • Standard FFPE tissue requirements means no need to send fresh or frozen preps
  • Have high sensitivity

 

 

Get Started


 

Watch our on-demand webinar

Modern Diagnosis of Sarcoma

Presented by Lawrence M. Weiss, MD, Medical Director, and Tony Tran, BS, on September 15, 2016
 

Sarcoma

Dr larry Weiss

    NGS Non-Ewing Sarcoma Fusion Profile
    NGS Non-Ewing Sarcoma Fusion Profile
     

    NGS Non-Ewing Sarcoma Fusion Profile

    The NGS Non-Ewing Sarcoma Fusion Profile is a targeted next-generation sequencing panel that can detect various translocations unrelated to Ewing's sarcoma in the genes ALK, CAMTA1, CCNB3, CIC, EPC1, FOXO1, FUS, GLI1, HMGA2, JAZF1, MEAF6, MKL2, NCOA2, NTRK3, PDGFB, PLAG1, STAT6, TAF15, TCF12, TFE3, TFG, USP6, YWHAE, plus their fusion partners.

    Review and print test descriptions, specimen requirements, turnaround times, CPT codes, and other test information here.
    Printable Test Details

    Tumor Type Translocation Fusion Partners
    Aneurysmal bone cyst t(16;17)(q22;p13) CDH11-USP6
    t(1;17)(p34.3;p13) THRAP3-USP6
    t(3;17)(q21;p13) CNBP-USP6
    t(9;17)(q22;p13) OMD-USP6
    t(17;17)(q21;p13) COL1A1-USP6
    Angiofibroma t(5;8)(p15;q13) AHRR-NCOA2
    Angiomatoid fibrous histiocytoma t(12;22)(q13;q12) EWSR1-ATF1
    t(2;22)(q33;q12) EWSR1-CREB1
    t(12;16)(q13;p11) FUS-ATF1
    Alveolar rhabdomyosarcoma t(2;13)(q35;q14) PAX3-FKHR (PAX3-FOXO1)
    t(1;13)(p36;q14) PAX7-FKHR (PAX7-FOXO1)
    Alveolar soft-part sarcoma der(17)t(X;17)(p11;q25) ASPSCR1-TFE3
    Chondroid lipoma t(11;16)(q13;p13) C11orf95-MKL2
    Clear-cell sarcoma t(12;22)(q13;q12) EWSR1-ATF1
    t(2;22)(q33;q12) EWSR1-CREB1
    Congenital/infantile fibrosarcoma t(12;15)(p13;q25) ETV6-NTRK3
    Dermatofibrosarcoma protuberans/giant cell fibroblastoma t(17;22)(q21;q13) COLIA1-PDGFB
    Desmoplastic small round-cell tumor t(11;22)(p13;q12) EWSR1-WT1
    Endometrial stromal sarcoma t(7;17)(p15;q11) JAZF1-JJAZ1(SUZ12)
    t(6;7)(p21;p15) JAZF1-PHF1
    t(6;10)(p21;p11) EPC-PHF1
    t(10;17)(q22;p13) YWHAE-FAM22A/B
    t(1;6)(p32~34;p21) MEAF6-PHF1
    Epithelioid hemangioendothelioma t(1;3)(p36;q25) WWTR1-CAMTA1
    t(X;11)(p11.2;q22.1) TFE3-YAP1
    Ewing sarcoma; Primitive neuroectodemal tumor (PNET) t(11;22)(q24;q12) EWSR1-FLI1
    t(21;22)(q22;q12) EWSR1-ERG
    t(7;22)(p22;q12) EWSR1-ETV1
    t(2;22)(q33;q12) EWSR1-FEV
    t(17;22)(q12;q12) EWSR1-E1AF
    inv(22)(q21;q12) EWSR1-ZSG
    t(16;21)(p11;q22) FUS-ERG
    Ewing-like bone sarcoma inv(X)(p11.4p11.22) BCOR-CCNB3
    t(20;22)(q13;q12) EWSR1-NFATC2
    Extraskeletal myxoid chondrosarcoma t(9;22)(q22;q12) EWSR1-NR4A3
    t(9;17)(q22;q11) TAF15-NR4A3
    t(9;15)(q22;q21) TCF12-NR4A3
    t(3;9)(q11;q22) TFG-NR4A3
    Giant cell fibroblastoma t(17;22)(q21;q13) COL1A1-PDGFB
    Inflammatory myofibroblastic tumor t(1;2)(q22;p23) TPM3-ALK
    t(2;19)(p23;p13) TPM4-ALK
    t(2;17)(p23;q23) CLTC-ALK
    t(2;2)(p23;q13) RANBP2-ALK
    t(2;11)(p23;p15) CARS-ALK
    inv(2)(p23;q35) ATIC-ALK
    t(2;4)(p23;q21) SEC31A-ALK
    Lipoblastoma t(7;8)(p22;q13) COL1A2-PLAG1
    Lipoma t(3;12)(q27-28;q14-q15) HMGA2-LPP
    LPP-HMGA2
    Low-grade fibromyxoid sarcoma t(7;16)(q33;p11) FUS-CREB3L2
    t(11;16)(p11;p11) FUS-CREB3L1
    Meningeal hemangiopericytoma inv(12)(q13q13) NAB2-STAT6
    Mesenchymal chondrosarcoma t(8;8)(q13;q21) HEY1-NCOA2
    Myoepithelial tumor of soft tissue and bone t(6;22)(p21;q12) EWSR1-POU5F1
    t(19;22)(q13;q12) EWSR1-ZNF444
    t(1;22)(q23;q12) EWSR1-PBX1
    t with 16p11 FUS
    Myxoid/round-cell liposarcoma t(12;16)(q13;p11) FUS-DDIT3
    t(12;22)(q13;q12) EWSR1-DDIT3
    Nodular fasciitis t(17;22)(p13;q13) MYH9-USP6
    Pericytoma t(7;12)(p22;q13) ACTB-GLI1
    Pulmonary myxoid sarcoma t(2;22)(q34;q12) EWSR1-CREB1
    Sclerosing epithelioid fibrosarcoma t(7;16)(p22;q24) FUS-CREB3L2
    t(11;16)(p13;p11.2) FUS-CREB3L1
    Solitary fibrous tumor inv(12)(q13q13) NAB2-STAT6
    Spindle cell rhabdomyosarcoma t(6;8)(p21;q13) SRF-NCOA2
    t(8;11)(q13;p15) TEAD-NCOA2
    Synovial sarcoma t(X;18)(p11;q11) SS18-SSX1
    SS18-SSX2
    SS18-SSX4
    Undifferentiated small round blue cell tumor t(4;19)(q35;q13) CIC-DUX4
    t(10;19)(q26;q13)

    CIC-DUX4

    NGS Rhabdomyosarcoma Fusion Profile
    NGS Rhabdomyosarcoma Fusion Profile
     

    NGS Rhabdomyosarcoma Fusion Profile

    The NGS Rhabdomyosarcoma Fusion Profile is a targeted next-generation sequencing panel that can detect various translocations related to rhabdomyosarcoma in the genes FOXO1, NCOA2, TFE3, plus their fusion partners.

    Review and print test descriptions, specimen requirements, turnaround times, CPT codes, and other test information here. 

    Printable Test Details

    Tumor Type Translocation Fusion Partners
    Alveolar rhabdomyosarcoma t(2;13)(q35;q14) PAX3-FKHR (PAX3-FOXO1)
    t(1;13)(p36;q14) PAX7-FKHR (PAX7-FOXO1)
    Alveolar soft-part sarcoma der(17)t(X;17)(p11;q25) ASPSCR1-TFE3
    Spindle cell rhabdomyosarcoma t(6;8)(p21;q13) SRF-NCOA2
    t(8;11)(q13;p15) TEAD-NCOA2

    NeoTYPE™ Liposarcoma Fusion Profile
    NeoTYPE™ Liposarcoma Fusion Profile

    NeoTYPE™ Liposarcoma Fusion Profile

    The NeoTYPE™ Liposarcoma Fusion Profile combines next-generation sequencing to detect translocations in the genes EWSR1, FUS, HMGA2, PLAG1, plus their fusion partners. Additionally, FISH testing for MDM2 to detect amplifications relevant in liposarcoma is also performed.

    Review and print test descriptions, specimen requirements, turnaround times, CPT codes, and other test information here. 

    Printable Test Details

    Tumor Type

    Translocation

    Fusion Partners

    Lipoblastoma t(7;8)(p22;q13) COL1A2-PLAG1

    Lipoma

    t(3;12)(q27-28;q14-q15)

    HMGA2-LPP

    LPP-HMGA2

    Myxoid/round-cell liposarcoma

    t(12;22)(q13;q12)

    EWSR1-DDIT3

     

    NGS Ewing Sarcoma Fusion Profile
    NGS Ewing Sarcoma Fusion Profile

    NGS Ewing Sarcoma Fusion Profile

    The NGS Ewing Fusion Profile is a targeted next-generation sequencing panel that can detect various translocations relevant in Ewing's sarcoma in the gene EWSR1, plus its fusion partners.

    Review and print test descriptions, specimen requirements, turnaround times, CPT codes, and other test information here. 

    Printable Test Details

    Tumor Type

    Translocation

    Fusion Partners

    Clear-cell sarcoma t(12;22)(q13;q12) EWSR1-ATF1
    t(2;22)(q33;q12) EWSR1-CREB1
    Desmoplastic small round-cell tumor t(11;22)(p13;q12) EWSR1-WT1
    Ewing sarcoma; Primitive neuroectodemal tumor (PNET) t(11;22)(q24;q12) EWSR1-FLI1
    t(21;22)(q22;q12) EWSR1-ERG
    t(7;22)(p22;q12) EWSR1-ETV1
    t(2;22)(q33;q12) EWSR1-FEV
    t(17;22)(q12;q12) EWSR1-E1AF
    inv(22)(q21;12) EWSR1-ZSG
    Ewing-like bone sarcoma t(20;22)(q13;q12) EWSR1-NFATC2
    Myoepithelial tumor of
    soft tissue and bone
    t(6;22)(p21;q12) EWSR1-POU5F1
    t(19;22)(q13;q12) EWSR1-ZNF444
    t(1;22)(q23;q12) EWSR1-PBX1
    Extraskeletal myxoid chondrosarcoma t(9;22)(q22;q12) EWSR1-NR4A3
    Myxoid/round-cell liposarcoma t(12;22)(q13;q12) EWSR1-DD1T3
    Pulmonary myxoid sarcoma t(2;22)(q34;q12) EWSR1-CREB1
    Angiomatoid fibrous histiocytoma t(12;22)(q13;q12) EWSR1-ATF1
    t(2;22)(q33;q12) EWSR1-CREB1

    NGS Pediatric Sarcoma Fusion Profile
    NGS Pediatric Sarcoma Fusion Profile

    NGS Pediatric Sarcoma Fusion Profile

    The NGS Pediatric Sarcoma Fusion Profile is a targeted next-generation sequencing panel that can detect various translocations related to pediatric sarcomas in the genes ALK, EWSR1, FUS, FLI1, NTRK3, USP6, plus their fusion partners.

    Review and print test descriptions, specimen requirements, turnaround times, CPT codes, and other test information here. 

    Printable Test Details

    Tumor Type

    Translocation

    Fusion Partners

    Angiomatoid fibrous histiocytoma t(12;22)(q13;q12) EWSR1-ATF1
    t(2;22)(q33;q12) EWSR1-CREB1
    t(12;16)(q13;p11) FUS-ATF1
    Congenital/infantile fibrosarcoma t(12;15)(p13;q25) ETV6-NTRK3
    Inflammatory myofibroblastic tumor t(1;2)(q22;p23) TPM3-ALK
    t(2;19)(p23;p13) TPM4-ALK
    t(2;17)(p23;q23) CLTC-ALK
    t(2;2)(p23;q13) RANBP2-ALK
    t(2;11)(p23;p15) CARS-ALK
    inv(2)(p23;q35) ATIC-ALK
    t(2;4)(p23;q21) SEC31A-ALK
    Nodular fasciitis t(17;22)(p13;q13) MYH9-USP6
    Pericytoma t(7;12)(p22;q13) ACTB-GLI1

    NGS Comprehensive Sarcoma Fusion Profile
    NGS Comprehensive Sarcoma Fusion Profile

    NGS Comprehensive Sarcoma Fusion Profile

    Review and print test descriptions, specimen requirements, turnaround times, CPT codes, and other test information here. 

    Printable Test Details

    Tumor Type

    Translocation

    Fusion Partners

    Aneurysmal bone cyst t(16;17)(q22;p13) CDH11-USP6
    t(1;17)(p34.3;p13) THRAP3-USP6
    t(3;17)(q21;p13) CNBP-USP6
    t(9;17)(q22;p13) OMD-USP6
    t(17;17)(q21;p13) COL1A1-USP6
    Angiofibroma t(5;8)(p15;q13) AHRR-NCOA2
    Angiomatoid fibrous histiocytoma t(12;22)(q13;q12) EWSR1-ATF1
    t(2;22)(q33;q12) EWSR1-CREB1
    t(12;16)(q13;p11) FUS-ATF1
    Alveolar rhabdomyosarcoma t(2;13)(q35;q14) PAX3-FKHR (PAX3-FOXO1)
    t(1;13)(p36;q14) PAX7-FKHR (PAX7-FOXO1)
    Alveolar soft-part sarcoma der(17)t(X;17)(p11;q25) ASPSCR1-TFE3
    Chondroid lipoma t(11;16)(q13;p13) C11orf95-MKL2
    Clear-cell sarcoma t(12;22)(q13;q12) EWSR1-ATF1
    t(2;22)(q33;q12) EWSR1-CREB1
    Congenital/infantile fibrosarcoma t(12;15)(p13;q25) ETV6-NTRK3
    Dermatofibrosarcoma protuberans/giant cell fibroblastoma t(17;22)(q21;q13) COLIA1-PDGFB
    Desmoplastic small round-cell tumor t(11;22)(p13;q12) EWSR1-WT1
    Endometrial stromal sarcoma t(7;17)(p15;q11) JAZF1-JJAZ1(SUZ12)
    t(6;7)(p21;p15) JAZF1-PHF1
    t(6;10)(p21;p11) EPC-PHF1
    t(10;17)(q22;p13) YWHAE-FAM22A/B
    t(1;6)(p32~34;p21) MEAF6-PHF1
    Epithelioid hemangioendothelioma t(1;3)(p36;q25) WWTR1-CAMTA1
    t(X;11)(p11.2;q22.1) TFE3-YAP1
    Ewing sarcoma; Primitive neuroectodemal tumor (PNET) t(11;22)(q24;q12) EWSR1-FLI1
    t(21;22)(q22;q12) EWSR1-ERG
    t(7;22)(p22;q12) EWSR1-ETV1
    t(2;22)(q33;q12) EWSR1-FEV
    t(17;22)(q12;q12) EWSR1-E1AF
    inv(22)(q21;q12) EWSR1-ZSG
    t(16;21)(p11;q22) FUS-ERG
    Ewing-like bone sarcoma inv(X)(p11.4p11.22) BCOR-CCNB3
    t(20;22)(q13;q12) EWSR1-NFATC2
    Extraskeletal myxoid chondrosarcoma t(9;22)(q22;q12) EWSR1-NR4A3
    t(9;17)(q22;q11) TAF15-NR4A3
    t(9;15)(q22;q21) TCF12-NR4A3
    t(3;9)(q11;q22) TFG-NR4A3
    Giant cell fibroblastoma t(17;22)(q21;q13) COL1A1-PDGFB
    Inflammatory myofibroblastic tumor t(1;2)(q22;p23) TPM3-ALK
    t(2;19)(p23;p13) TPM4-ALK
    t(2;17)(p23;q23) CLTC-ALK
    t(2;2)(p23;q13) RANBP2-ALK
    t(2;11)(p23;p15) CARS-ALK
    inv(2)(p23;q35) ATIC-ALK
    t(2;4)(p23;q21) SEC31A-ALK
    Lipoblastoma t(7;8)(p22;q13) COL1A2-PLAG1
    Lipoma t(3;12)(q27-28;q14-q15) HMGA2-LPP
    LPP-HMGA2
    Low-grade fibromyxoid sarcoma t(7;16)(q33;p11) FUS-CREB3L2
    t(11;16)(p11;p11) FUS-CREB3L1
    Meningeal hemangiopericytoma inv(12)(q13q13) NAB2-STAT6
    Mesenchymal chondrosarcoma t(8;8)(q13;q21) HEY1-NCOA2
    Myoepithelial tumor of soft tissue and bone t(6;22)(p21;q12) EWSR1-POU5F1
    t(19;22)(q13;q12) EWSR1-ZNF444
    t(1;22)(q23;q12) EWSR1-PBX1
    t with 16p11 FUS
    Myxoid/round-cell liposarcoma t(12;16)(q13;p11) FUS-DDIT3
    t(12;22)(q13;q12) EWSR1-DDIT3
    Nodular fasciitis t(17;22)(p13;q13) MYH9-USP6
    Pericytoma t(7;12)(p22;q13) ACTB-GLI1
    Pulmonary myxoid sarcoma t(2;22)(q34;q12) EWSR1-CREB1
    Sclerosing epithelioid fibrosarcoma t(7;16)(p22;q24) FUS-CREB3L2
    t(11;16)(p13;p11.2) FUS-CREB3L1
    Solitary fibrous tumor inv(12)(q13q13) NAB2-STAT6
    Spindle cell rhabdomyosarcoma t(6;8)(p21;q13) SRF-NCOA2
    t(8;11)(q13;p15) TEAD-NCOA2
    Synovial sarcoma t(X;18)(p11;q11) SS18-SSX1
    SS18-SSX2
    SS18-SSX4
    Undifferentiated small round blue cell tumor t(4;19)(q35;q13) CIC-DUX4
    t(10;19)(q26;q13) CIC-DUX4