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Oncology FISH
Oncology Blood and Bone Marrow Panels
Performed in the ARUP Cytogenetics Laboratory
2002647 Acute Lymphoblastic Leukemia Panel (ALL) by FISH, Adult
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| B-ALL/LBL with MYC rearrangement | 8q24 | MYC | Breakapart | MYC Breakapart, MYC Rrearrangement Cytogenetics Laboratory Burkitt 2002647 Acute Lymphoblastic Leukemia Panel (ALL) by FISH, Adult |
| B-ALL/LBL with BCR::ABL1 fusion | t(9;22)(q34;q11.2) | BCR::ABL1, ASS1 | Tri-Color Dual Fusion | BCR::ABL1 Fusion, Philadelphia (Ph) chromosome Cytogenetics Laboratory 2002647 Acute Lymphoblastic Leukemia Panel (ALL) by FISH, Adult |
| B-ALL/LBL with KMT2A rearrangement | 11q23 | KMT2A (MLL) | Breakapart | KMT2A Breakapart, KMT2A (MLL) Rearrangement, Loss/Deletion 11q, del(11q) Cytogenetics Laboratory 2002647 Acute Lymphoblastic Leukemia Panel (ALL) by FISH, Adult |
| B-ALL/LBL with IGH rearrangement | 14q32 | IGH | Breakapart | Cytogenetics Laboratory 2002647 Acute Lymphoblastic Leukemia Panel (ALL) by FISH, Adult |
| B-ALL/LBL with TCF3 rearrangement | 19p13 | TCF3 (E2A) | Breakapart | TCF3 Breakapart, TCF3 (E2A) Rearrangement Cytogenetics Laboratory 2002647 Acute Lymphoblastic Leukemia Panel (ALL) by FISH, Adult |
2002719 Acute Lymphoblastic Leukemia Panel (ALL), Pediatric
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| B-ALL/LBL with high hyperdiploidy | +4,+10 | CEP4, CEP10 | Enumeration | Trisomy 4, Trisomy 10, Hyperdiploidy Adult Cytogenetics Laboratory 2002719 Acute Lymphoblastic Leukemia Panel (ALL), Pediatric |
| B-ALL/LBL with BCR::ABL1 fusion | t(9;22)(q34;q11.2) | BCR::ABL1, ASS1 | Tri-Color Dual Fusion | BCR::ABL1 Fusion, Philadelphia (Ph) chromosome Cytogenetics Laboratory 2002719 Acute Lymphoblastic Leukemia Panel (ALL), Pediatric |
| B-ALL/LBL with KMT2A rearrangement | 11q23 | KMT2A (MLL) | Breakapart | KMT2A Breakapart, KMT2A (MLL) Rearrangement, Loss/Deletion 11q, del(11q) 2002719 Acute Lymphoblastic Leukemia Panel (ALL), Pediatric |
| B-ALL/LBL with ETV6::RUNX1 fusion | t(12;21)(p13;q22) | ETV6::RUNX1 (TEL::AML1) | Dual-Color Single Fusion | ETV6::RUNX1 (TEL-AML1 ) Fusion, iAMP21, Loss/Deletion 12p, del(12p), +21 2002719 Acute Lymphoblastic Leukemia Panel (ALL), Pediatric |
3016654 Acute Myeloid Leukemia Panel by FISH
Note: The probe for PML::RARA is automatically performed with this panel and is reported separately to ensure the quickest possible turnaround time. The result of this probe is reported as soon as available and is charged separately. (See PML::RARA Translocation by FISH, ARUP test code 2002363.)
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| Acute Promyelocytic Leukemia (APL) with PML::RARA fusion | t(15;17)(q24;q21) | PML::RARA | Dual-Color Dual Fusion | PML::RARA Fusion, +15, +15q, +17, +17q 3016654 Acute Myeloid Leukemia (AML) Panel by FISH Cytogenetics Laboratory 2002363 Acute Myeloid Leukemia (AML) |
| AML with RUNX1::RUNX1T1 fusion | t(8;21)(q22;q22) | RUNX1T1::RUNX1 (ETO::AML1) | Dual-Color Dual Fusion | RUNX1T1::RUNX1 (ETO::AML1) Fusion, iAMP21, +8, +21 3016654 Acute Myeloid Leukemia (AML) Panel by FISH Cytogenetics Laboratory 2002363 |
| AML with CBFB::MYH11 fusion | inv(16)(p13.3q22) or t(16;16)(p13.1;q22) | CBFB::MYH11 | Dual-Color Dual Fusion | CBFB::MYH11 Fusion, inv(16)/t(16;16) 3016654 Acute Myeloid Leukemia (AML) Panel by FISH Cytogenetics Laboratory 2002363 |
| AML with KMT2A rearrangement | 11q23 | KMT2A (MLL) | Breakapart | KMT2A Breakapart, KMT2A (MLL) Rearrangement, Loss/Deletion 11q, del(11q) 3016654 Acute Myeloid Leukemia (AML) Panel by FISH Cytogenetics Laboratory 2002363 |
| AML with GATA2::MECOM (aka RPN1::EVI1) fusion | inv(3) or t(3;3) | RPN1::MECOM (EVI1) | Dual-Color Dual Fusion | GATA2::MECOM (RPN1-EVI1) Fusion, inv(3)(q21q26.2), t(3;3)(q21;q26.2) 3016654 Acute Myeloid Leukemia (AML) Panel by FISH Cytogenetics Laboratory 2002363 |
| AML with MDS-related changes (AML-MR) | del(5)(q31) | EGR1 | Enumeration | 5q31 (EGR1) Deletion, Loss/Deletion 5q, del(5q), -5, Monosomy 5, with 5p15 (D5S23) 3016654 Acute Myeloid Leukemia (AML) Panel by FISH Cytogenetics Laboratory 2002363 |
| AML with MDS-related changes (AML-MR) | del(7)(q31)/-7 | D7S486 | Enumeration | 7q31 (D7S486) Deletion, Loss/Deletion 7q, del(7q), -7, Monosomy 7 3016654 Acute Myeloid Leukemia (AML) Panel by FISH Cytogenetics Laboratory 2002363 |
| AML with NUP98 rearrangement | 11p15 | NUP98 | Breakapart | NUP98 Breakapart, NUP98 Rearrangement 3016654 Acute Myeloid Leukemia (AML) Panel by FISH Cytogenetics Laboratory 2002363 |
2002295 Chromosome FISH, CLL Panel
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| CLL/SLL | del(11)(q22.3) | ATM | Enumeration | ATM Deletion, Loss/Deletion 11q, del(11q) 2002295 Chromosome FISH, CLL Panel Cytogenetics Laboratory |
| CLL/SLL | +12 | D12Z3 | Enumeration | Trisomy 12 2002295 Chromosome FISH, CLL Panel Cytogenetics Laboratory Cytogenetics Laboratory |
| CLL/SLL | del(13)(q14.3) | D13S319 | Enumeration | 13q14 (D13S319) Deletion, Loss/Deletion 13q, with 13q34 (LAMP1) 2002295 Chromosome FISH, CLL Panel Cytogenetics Laboratory |
| CLL/SLL | del(17)(p13.1) | TP53 (p53) | Enumeration | TP53 Deletion, TP53 (p53) Deletion 2002295 Chromosome FISH, CLL Panel Cytogenetics Laboratory Cytogenetics Laboratory |
3020127 Chronic myelogenous leukemia (CML) probe ordered individually as test code 3020127
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| Philadelphia translocation-positive leukemia | t(9;22)(q34;q11.2) | BCR::ABL1, ASS1 | Tri-Color Dual Fusion | BCR::ABL1 Fusion, Philadelphia (Ph) chromosome FISH, Interphase (Chronic myelogenous leukemia [CML] probes ordered individually as test code 3020127) Cytogenetics Laboratory |
3020097 Eosinophilia Panel by FISH
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| Myeloid/lymphoid neoplasm with PDGFRA rearrangement | 4q12 | FIP1L1::PDGFRA Fusion, with CHIC2 Deletion | Tri-Color Single Fusion | FIP1L1::PDGFRA Fusion, PDGFR-alpha/PDGFRA Rearrangement, PDGFRA-CHIC2-FIP1L1 with CHIC2 Deletion 3020097 Eosinophilia Panel by FISH Cytogenetics Laboratory |
| Myeloid/lymphoid neoplasm with PDGFRB rearrangement | 5q32 | PDGFRB | Breakapart | PDGFRB Breakapart, PDGFR-beta/PDGFRB Rearrangement 3020097 Eosinophilia Panel by FISH Cytogenetics Laboratory |
| Myeloid/lymphoid neoplasm with FGFR1 rearrangement | 8p11.2 | FGFR1 | Breakapart | FGFR1 Breakapart, FGFR1 Rearrangement 3020097 Eosinophilia Panel by FISH Cytogenetics Laboratory |
| Myeloid/lymphoid neoplasm with JAK2 rearrangement | 9p24 | JAK2 | Breakapart | JAK2 Breakapart, JAK2 Rearrangement, +9, Trisomy 9, Hyperdiploidy 3020097 Eosinophilia Panel by FISH Cytogenetics Laboratory |
3020127 Lymphoma probe ordered individually as test code 3020127
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| Burkitt lymphoma | 8q24 | MYC | Breakapart | MYC Rrearrangement FISH Interphase Lymphoma 3020127 Cytogenetics Laboratory |
| Diffuse large B-cell lymphoma (DLBCL) | 3q27 | BCL6 | Breakapart | BCL6 Breakapart Rearrangement FISH Interphase Lymphoma 3020127 Cytogenetics Laboratory Diffuse large cell |
| Follicular lymphoma FL, Diffuse large B-cell lymphoma DLBCL | t(14;18)(q32;q21) | IGH::BCL2 | Dual-Color Dual Fusion | IGH::BCL2 Fusion/Rearrangement FISH, Interphase Lymphoma 3020127 Cytogenetics Laboratory |
| Mature B-cell Lymphoma with IgH Rearrangement | 14q32 | IGH | Breakapart | FISH Interphase Lymphoma 3020127 Cytogenetics Laboratory |
| Mantle cell lymphoma (MCL) | t(11;14)(q13;q32) | IGH::CCND1 | Dual-Color Dual Fusion | Fusion/Rearrangement Interphase Lymphoma 3020127 Cytogenetics Laboratory |
| Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (EMZL, aka MALT lymphoma) | 18q21 | MALT1 | Breakapart | Rearrangement FISH Interphase Lymphoma 3020127 Cytogenetics Laboratory |
2002650 Lymphoma (Aggressive) Panel by FISH
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| Diffuse large B-cell lymphoma (DLBCL) | 3q27 | BCL6 | Breakapart | Rearrangement 2002650 Lymphoma Aggressive Panel by FISH Cytogenetics Laboratory |
| Burkitt lymphoma (BL), Diffuse large B-cell lymphoma (DLBCL) | 8q24 | MYC | Breakapart | MYC Breakapart, MYC Rrearrangement 2002650 Lymphoma (Aggressive) Panel by FISH Diffuse large B-cell lymphoma (DLBCL) 3q27 BCL6 Breakapart BCL6 Breakapart, BCL6 Rearrangement Cytogenetics Laboratory |
| Follicular lymphoma (FL), Diffuse large B-cell lymphoma (DLBCL) | t(14;18)(q32;q21) | IGH::BCL2 | Dual-Color Dual Fusion | IGH::BCL2 Fusion/Rearrangement 2002650 Lymphoma Aggressive Panel by FISH Cytogenetics Laboratory Follicular |
3002063 Multiple Myeloma Panel by FISH
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| Plasma cell neoplasms / multiple myeloma | 1q21 | CKS1B | Enumeration | 1q Gain/Amplification, with 1p32 (CDKN2C) 3002063 Multiple Myeloma Panel by FISH Cytogenetics Laboratory |
| Plasma cell neoplasms / multiple myeloma | 1p32 | CDKN2C | Enumeration | 1p Loss/Deletion, CDKN2C/CKS1B (1p/1q) 3002063 Multiple Myeloma Panel by FISH Cytogenetics Laboratory |
| Plasma cell neoplasms / multiple myeloma | t(11;14)(q13;q32) | IGH::CCND1 | Dual-Color Dual Fusion | Fusion/Rearrangement, +11 3002063 Multiple Myeloma Panel FISH Cytogenetics Laboratory Mantle cell |
| Plasma cell neoplasms / multiple myeloma | t(14;20)(q32;q12) | IGH::MAFB | Dual-Color Dual Fusion | IGH::MAFB Fusion/Rearrangement 3002063 Multiple Myeloma Panel by FISH Cytogenetics Laboratory |
| Plasma cell neoplasms / multiple myeloma | del(17)(p13) | TP53 (p53) – NF1 (control) | Enumeration | TP53 Deletion, TP53 (p53) Deletion, with 17q11 (NF1) 3002063 Multiple Myeloma Panel by FISH Cytogenetics Laboratory |
| Plasma cell neoplasms / multiple myeloma | t(4;14)(p16;q32) | IGH::FGFR3 and MMSET | Dual-Color Dual Fusion | IGH::FGFR3 Fusion 3002063 Multiple Myeloma Panel by FISH Cytogenetics Laboratory |
| Plasma cell neoplasms / multiple myeloma | t(14;16)(q32;q23) | IGH::MAF | Dual-Color Dual Fusion | IGH::MAF Fusion/Rearrangement 3002063 Multiple Myeloma Panel by FISH Cytogenetics Laboratory |
2002709 Myelodysplastic Syndrome (MDS) Panel by FISH
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| Myelodysplastic neoplasms / Myelodysplastic syndrome with 5q deletion (MDS-5q) | del(5)(q31) | EGR1 | Enumeration | 5q31 (EGR1) Deletion, Loss/Deletion 5q, del(5q), -5, Monosomy 5, with 5p15 (D5S23) 2002709 Myelodysplastic Syndrome (MDS) Panel by FISH Cytogenetics Laboratory |
| Myelodysplastic neoplasms / Myelodysplastic syndrome (MDS) | del(7)(q31)/-7 | D7S486 | Enumeration | 7q31 (D7S486) Deletion, Loss/Deletion 7q, del(7q), -7, Monosomy 7 2002709 Myelodysplastic Syndrome (MDS) Panel by FISH Cytogenetics Laboratory |
| Myelodysplastic neoplasms / Myelodysplastic syndrome (MDS) | +8 | CEP8 | Enumeration | Trisomy 8 2002709 Myelodysplastic Syndrome (MDS) Panel by FISH Cytogenetics Laboratory |
| Myelodysplastic neoplasms / Myelodysplastic syndrome (MDS) | del(20)(q12) | D20S108 | Enumeration | 20q12 (D20S108) Deletion, Loss/Deletion 20q, del(20q), with 20q13 (MYBL2) 2002709 Myelodysplastic Syndrome (MDS) Panel by FISH Cytogenetics Laboratory |
2002360 Myeloproliferative Disorders Panel by FISH
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| Myeloid/lymphoid neoplasm with PDGFRA rearrangement | 4q12 | FIP1L1::PDGFRA Fusion, with CHIC2 Deletion | Tri-Color Single Fusion | FIP1L1::PDGFRA Fusion, PDGFR-alpha/PDGFRA Rearrangement, PDGFRA-CHIC2-FIP1L1 with CHIC2 Deletion 2002360 Myeloproliferative Disorders Panel by FISH Cytogenetics Laboratory |
| Myeloid/lymphoid neoplasm with PDGFRB rearrangement | 5q32 | PDGFRB | Breakapart | PDGFRB Breakapart, PDGFR-beta/PDGFRB Rearrangement 2002360 Myeloproliferative Disorders Panel by FISH Cytogenetics Laboratory |
| Myeloid/lymphoid neoplasm with FGFR1 rearrangement | 8p11.2 | FGFR1 | Breakapart | FGFR1 Breakapart, FGFR1 Rearrangement 2002360 Myeloproliferative Disorders Panel by FISH Cytogenetics Laboratory |
| Philadelphia translocation-positive leukemia | t(9;22)(q34;q11.2) | BCR::ABL1, ASS1 | Tri-Color Dual Fusion | BCR::ABL1 Fusion, Philadelphia (Ph) chromosome 2002360 Myeloproliferative Disorders Panel by FISH Cytogenetics Laboratory |
3000455 Ph-Like Acute Lymphoblastic Leukemia (ALL) Panel by FISH
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| Philadelphia-like (Ph-like) B-ALL/LBL | 1q25.2 | ABL2 | Breakapart | ABL2 Breakapart, ABL2 Rearrangement 3000455 Ph-Like Acute Lymphoblastic Leukemia (ALL) Panel by FISH Cytogenetics Laboratory |
| Philadelphia-like (Ph-like) B-ALL/LBL | 5q32 | CSF1R | Breakapart | CSF1R Breakapart, CSF1R Rearrangement 3000455 Ph-Like Acute Lymphoblastic Leukemia (ALL) Panel by FISH Cytogenetics Laboratory |
| Philadelphia-like (Ph-like) B-ALL/LBL | 5q32 | PDGFRB | Breakapart | PDGFRB Breakapart, PDGFR-beta/PDGFRB Rearrangement 3000455 Ph-Like Acute Lymphoblastic Leukemia (ALL) Panel by FISH Cytogenetics Laboratory |
| Philadelphia-like (Ph-like) B-ALL/LBL | 9p24 | JAK2 | Breakapart | JAK2 Breakapart, JAK2 Rearrangement, +9, Trisomy 9, Hyperdiploidy 3000455 Ph-Like Acute Lymphoblastic Leukemia (ALL) Panel by FISH Cytogenetics Laboratory |
| Philadelphia-like (Ph-like) B-ALL/LBL | 9q34.1 | ABL1 | Breakapart | ABL1 Breakapart, ABL1 Rearrangement 3000455 Ph-Like Acute Lymphoblastic Leukemia (ALL) Panel by FISH Cytogenetics Laboratory |
| Philadelphia-like (Ph-like) B-ALL/LBL | 19p13.2 | EPOR | Breakapart | EPOR Breakapart, EPOR Rearrangement 3000455 Ph-Like Acute Lymphoblastic Leukemia (ALL) Panel by FISH Cytogenetics Laboratory |
| Philadelphia-like (Ph-like) B-ALL/LBL | Xp22.33/Yp11.32 | CRLF2 | Breakapart | Xp22/Yp11 (CRLF2) Breakaprt/Deletion, CRLF2 Rearrangement, CRLF2 5' Deletion/P2RY8::CRLF2 Fusion 3000455 Ph-Like Acute Lymphoblastic Leukemia (ALL) Panel by FISH Cytogenetics Laboratory |
2002363PML::RARA Translocation by FISH
Note: The probe for PML::RARA is automatically performed with the Acute Myeloid Leukemia Panel by FISH, ARUP test code 3016654, and is reported separately to ensure the quickest possible turnaround time. The result of this probe is reported as soon as available and is charged separately.
| Disease Subtype | Probe Target | Gene(s)/Unique Sequence | Probe Type | aliases |
|---|---|---|---|---|
| Acute Promyelocytic Leukemia (APL) with PML::RARA fusion | t(15;17)(q24;q21) | PML::RARA | Dual-Color Dual Fusion | PML::RARA Fusion, +15, +15q, +17, +17q 2002363 Translocation by FISH 3016654 Acute Myeloid Leukemia (AML) |
Oncology Blood and Bone Marrow Miscellaneous Probes
Performed in the ARUP Cytogenetics Laboratory
To order individual probes, use ARUP test code 3020127, FISH Interphase, and specify the desired probe(s). To order individual, specific probes for myeloma or other plasma cell neoplasms instead of the full myeloma panel, use ARUP test code 3002737, FISH, Interphase, CD138+ Cells, and specify the desired probe(s). | ||||
|---|---|---|---|---|
| Probe Target | Gene(s)/Unique Sequence | Probe Type | Aliases (hidden) | |
| 1p32, with 1q21 | CDKN2C Deletion, with 1q21 (CKS1B) | Enumeration | Also available for plasma cell disorders (3002737) | 1p32 (CDKN2C), 1p Loss/Deletion, CDKN2C/CKS1B (1p/1q) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Plasma cell neoplasms; multiple myeloma; MGUS; Smoldering Myeloma; Plasma cell dyscrasias; MM |
| 1q21, with 1p32 | CKS1B Gain/Amplification, with 1p32 (CDKN2C) | Enumeration | Also available for plasma cell disorders (3002737) | 1q21 (CKS1B), 1q Gain/Amplification, with 1p32 (CDKN2C) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Plasma cell neoplasms; multiple myeloma; MGUS; Smoldering Myeloma; Plasma cell dyscrasias; MM |
| 1q25 | ABL2 Rearrangement | Breakapart | 1q25 (ABL2) Breakapart, ABL2 Rearrangement Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Philadelphia-like B-ALL/LBL; Ph-Like Acute Lymphoblastic Leukemia (ALL) | |
| t(3;3)(q21;q26.2), inv(3)(q21q26.2) | RPN1::MECOM Fusion | Dual-Color Dual Fusion | GATA2::MECOM (RPN1-EVI1) Fusion, inv(3)(q21q26.2), t(3;3)(q21;q26.2), inv(3)/t(3;3) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory AML with GATA2::MECOM (aka RPN1-EVI1) fusion; Acute Myeloid Leukemia | |
| 3q26 | MECOM (EVI1) Rearrangement (non-NY approved) | Breakapart | 3q26 (MECOM) Breakapart, MECOM (EVI1) Rearrangement (non-NY approved) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory | |
| 3q27 | BCL6 Rearrangement | Breakapart | 3q27 (BCL6) Breakapart, BCL6 Rearrangement Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Diffuse large B-cell lymphoma (DLBCL); Lymphoma (Aggressive) Panel by FISH | |
| 4 centromere | CEP4, Trisomy 4 | Enumeration | +4, Trisomy 4, Hyperdiploidy Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Acute Lymphoblastic Leukemia Panel (ALL), Pediatric; B-ALL/LBL with high hyperdiploidy | |
| t(4;14)(p16;q32) | IGH::FGFR3 Fusion | Dual-Color Dual Fusion | Also available for plasma cell disorders (3002737) | IGH::FGFR3 Fusion, t(4;14)(p16;q32) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Plasma cell neoplasms; multiple myeloma; MGUS; Smoldering Myeloma; Plasma cell dyscrasias; MM |
| 4q12 | FIP1L1::PDGFRA Fusion, with CHIC2 Deletion | Tri-Color Single Fusion | 4q12 FIP1L1::PDGFRA Fusion, PDGFR-alpha/PDGFRA Rearrangement, PDGFRA-CHIC2-FIP1L1 with CHIC2 Deletion Oncology FISH Probes INT Cytogenetics Laboratory 3020127 Myeloid/lymphoid neoplasm with PDGFRA rearrangement; Eosinophilia; Myeloid/lymphoid neoplasm with PDGFRA rearrangement; Myeloproliferative Disorders; MPN; MPD | |
| 5q31, with 5p15 | EGR1 Deletion, with D5S23 | Enumeration | 5q31 (EGR1) Deletion, Loss/Deletion 5q, del(5q), -5, Monosomy 5, with 5p15 (D5S23) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory AML with MDS-related changes (AML-MR); Acute Myeloid Leukemia; Myelodysplastic neoplasms / Myelodysplastic syndrome with 5q deletion (MDS-5q); Myelodysplastic Syndrome (MDS) | |
| 5q32 | CSF1R Rearrangement | Breakapart | 5q32 (CSF1R) Breakapart, CSF1R Rearrangement Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Philadelphia-like (Ph-like) B-ALL/LBL; Ph-Like Acute Lymphoblastic Leukemia (ALL) | |
| 5q32 | PDGFRB Rearrangement | Breakapart | 5q32 (PDGFRB) Breakapart, PDGFR-beta/PDGFRB Rearrangement Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Eosinophilia; Myeloid/lymphoid neoplasm with PDGFRB rearrangement; Myeloid/lymphoid neoplasm with PDGFRB rearrangement; Myeloproliferative Disorders; MPN; MPD; Philadelphia-like (Ph-like) B-ALL/LBL; Ph-Like Acute Lymphoblastic Leukemia (ALL) | |
| 7p12, with CEP7 | IKZF1 (IKAROS) Deletion, with CEP7 | Enumeration | 7p12 IKZF1 (IKAROS) Deletion, Loss/Deletion 7p, del(7p) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory | |
| 7q31, with CEP7 | D7S486 Deletion, Monosomy 7 (CEP7) | Enumeration | 7q31 (D7S486) Deletion, Loss/Deletion 7q, del(7q), -7, Monosomy 7 Oncology FISH Probes INT 3020127 Cytogenetics Laboratory AML with MDS-related changes (AML-MR); Acute Myeloid Leukemia; Myelodysplastic neoplasms / Myelodysplastic syndrome (MDS) | |
| 8 centromere | CEP8, Trisomy 8 | Enumeration | +8, Trisomy 8 Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Myelodysplastic neoplasms / Myelodysplastic syndrome (MDS) | |
| 8p11.2, with CEP8 | FGFR1 Rearrangement, with CEP8 | Breakapart | Oncology FISH Probes INT 3020127 Cytogenetics Laboratory 8p11.2 (FGFR1) Breakapart, FGFR1 Rearrangement Myeloid/lymphoid neoplasm with FGFR1 rearrangement Eosinophilia Myeloid/lymphoid neoplasm with FGFR1 rearrangement; Myeloproliferative Disorders Panel by FISH; MPN; MPD | |
| t(8;21)(q22;q22) | RUNX1::RUNX1T1 (ETO::AML1) Fusion | Dual-Color Dual Fusion | Oncology FISH Probes INT 3020127 Cytogenetics Laboratory RUNX1T1::RUNX1 (ETO::AML1) Fusion, t(8;21)(q22;q22), iAMP21, +8, +21 AML with RUNX1::RUNX1T1 fusion; Acute Myeloid Leukemia | |
| 8q24 | MYC Rearrangement | Breakapart | Also available for plasma cell disorders (3002737) | Burkitt Oncology FISH Probes INT 3020127 Cytogenetics Laboratory 8q24 (MYC) Breakapart, MYC rearrangement B-ALL/LBL with MYC rearrangement, Acute Lymphoblastic Leukemia (ALL), Adult; Burkitt lymphoma (BL), Diffuse large B-cell lymphoma (DLBCL); Lymphoma (Aggressive) |
| t(8;14)(q24;q32) | IGH::MYC Fusion, with CEP8 | Dual-Color Dual Fusion | Also available for plasma cell disorders (3002737) | IGH::MYC Fusion/Rearrangement, t(8;14)(q24;q32) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory |
| 9 centromere | CEP 9, Trisomy 9 | Enumeration | Also available for plasma cell disorders (3002737) | +9, Trisomy 9, Hyperdiploidy Oncology FISH Probes INT 3020127 Cytogenetics Laboratory |
| 9p24 | JAK2 Rearrangement | Breakapart | Also available for plasma cell disorders (3002737) | 9p24 (JAK2) Breakapart, JAK2 Rearrangement, +9, Trisomy 9, Hyperdiploidy Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Myeloid/lymphoid neoplasm with JAK2 rearrangement; Eosinophilia; Philadelphia-like (Ph-like) B-ALL/LBL; Ph-Like Acute Lymphoblastic Leukemia (ALL) |
| 9p21, with CEP9 | CDKN2A Deletion, with CEP9 | Enumeration | 9p21 (CDKN2A) Deletion, Loss/Deletion 9p, del(9p) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory | |
| 9q34 | ABL1 Rearrangement | Breakapart | 9q34 (ABL1) Breakapart, ABL1 Rearrangement Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Philadelphia-like (Ph-like) B-ALL/LBL; Ph-Like Acute Lymphoblastic Leukemia (ALL) | |
| t(9;22)(q34;q11.2) | BCR::ABL1 Fusion, with ASS1 | Tri-Color Dual Fusion | BCR::ABL1 Fusion, Philadelphia (Ph) chromosome, t(9;22)(q34;q11.2) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory B-ALL/LBL with BCR::ABL1 fusion, Acute Lymphoblastic Leukemia (ALL), Adult; Acute Lymphoblastic Leukemia (ALL), Pediatric; B-ALL/LBL with BCR::ABL1 fusion; Philadelphia translocation-positive leukemia; Chronic myelogenous leukemia (CML); Myeloproliferative Disorders; MPN; MPD | |
| 10 centromere | CEP10, Trisomy 10 | Enumeration | +10, Trisomy 10, Hyperdiploidy Oncology FISH Probes INT 3020127 Cytogenetics Laboratory B-ALL/LBL with high hyperdiploidy; Acute Lymphoblastic Leukemia (ALL), Pediatric | |
| t(11;14)(q13;q32) | IGH::CCND1 Fusion | Dual-Color Dual Fusion | Also available for plasma cell disorders (3002737) | Fusion/Rearrangement +11 Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Mantle cell Mantle cell lymphoma (MCL); Plasma cell neoplasms; multiple myeloma; MGUS; Smoldering Myeloma; Plasma cell dyscrasias; MM |
| 11p15 | NUP98 Rearrangement | Breakapart | 11p15 (NUP98) Breakapart, NUP98 Rearrangement Oncology FISH Probes INT 3020127 Cytogenetics Laboratory AML with NUP98 rearrangement; Acute Myeloid Leukemia | |
| 11q22 | ATM Deletion | Enumeration | 11q22 (ATM) deletion, Loss/Deletion 11q, del(11q) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory CLL; SLL; Chronic Lymphocytic Leukemia; Chronic Lymphocytic lymphoma; Small lymphocytic lymphoma; Small lymphocytic leukemia; Chronic lymphoblastic; Small lymphoblastic | |
| 11q23 | KMT2A (MLL) Rearrangement | Breakapart | 11q23 (KMT2A) Breakapart, KMT2A (MLL) Rearrangement, Loss/Deletion 11q, del(11q) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Acute Lymphoblastic Leukemia (ALL), B-ALL/LBL with KMT2A rearrangement; B-ALL/LBL with KMT2A rearrangement; Acute Lymphoblastic Leukemia (ALL), Pediatric; AML with KMT2A rearrangement; Acute Myeloid Leukemia | |
| 12 centromere | CEP12, Trisomy 12 | Enumeration | +12, Trisomy 12 Oncology FISH Probes INT 3020127 Cytogenetics Laboratory CLL; SLL; Chronic Lymphocytic Leukemia; Chronic Lymphocytic lymphoma; Small lymphocytic lymphoma; Small lymphocytic leukemia; Chronic lymphoblastic; Small lymphoblastic | |
| 12p13 | ETV6 Rearrangement | Breakapart | 12p13 (ETV6) Breakapart, ETV6 Rearrangement, Loss/Deletion 12p, del(12p) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory | |
| t(12;21)(p13;q22) | ETV6::RUNX1 (TEL::AML1) Fusion | Dual-Color Single Fusion | ETV6::RUNX1 (TEL-AML1 ) Fusion, t(12;21)(p13;q22), iAMP21, Loss/Deletion 12p, , del(12p), +21 Oncology FISH Probes INT 3020127 Cytogenetics Laboratory B-ALL/LBL with ETV6::RUNX1 fusion; Acute Lymphoblastic Leukemia (ALL), Pediatric | |
| 13q14, with 13q34 | D13S319 Deletion, with LAMP1 | Enumeration | Also available for plasma cell disorders (3002737) | 13q14 (D13S319) Deletion, Loss/Deletion 13q, with 13q34 (LAMP1) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory CLL; SLL; Chronic Lymphocytic Leukemia; Chronic Lymphocytic lymphoma; Small lymphocytic lymphoma; Small lymphocytic leukemia; Chronic lymphoblastic; Small lymphoblastic |
| 14q32 | TCL1 Rearrangement | Breakapart | Oncology FISH Probes INT 3020127 Cytogenetics Laboratory IgH rearrangement | |
| 14q32 | IGH Rearrangement | Breakapart | Also available for plasma cell disorders (3002737) | Oncology FISH Probes INT 3020127 Cytogenetics Laboratory B-ALL/LBL with IGH rearrangement, Acute Lymphoblastic Leukemia (ALL); Mature B-cell Lymphoma with IgH Rearrangement |
| t(14;16)(q32;q23) | IGH::MAF Fusion | Dual-Color Dual Fusion | Also available for plasma cell disorders (3002737) | IGH::MAF Fusion/Rearrangement, t(14;16)(q32;q23) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Plasma cell neoplasms; multiple myeloma; MGUS; Smoldering Myeloma; Plasma cell dyscrasias; MM |
| t(14;18)(q32;q21) | IGH::BCL2 Fusion | Dual-Color Dual Fusion | Rearrangement Oncology FISH Probes INT 3020127 Cytogenetics Laboratory IGH::BCL2 Fusion/Rearrangement, t(14;18)(q32;q21) Follicular lymphoma (FL), Diffuse large B-cell lymphoma (DLBCL); Lymphoma (Aggressive) | |
| t(14;20)(q32;q12) | IGH::MAFB Fusion | Dual-Color Dual Fusion | Also available for plasma cell disorders (3002737) | IGH::MAFB Fusion/Rearrangement, t(14;20)(q32;q12) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory IGH::MAFB Fusion/Rearrangement, t(14;20)(q32;q12) Plasma cell neoplasms; multiple myeloma; MGUS; Smoldering Myeloma; Plasma cell dyscrasias; MM |
| t(15;17)(q24;q21) | PML::RARA Fusion | Dual-Color Dual Fusion | Also available for plasma cell disorders (3002737) | PML::RARA Fusion, t(15;17)(q24;q21), +15, +15q, +17, +17q Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Acute Promyelocytic Leukemia (APL) with PML::RARA fusion; Acute Myeloid Leukemia (AML) |
| 16q22 | CBFB Rearrangement | Breakapart | 16q22 (CBFB) Breakapart, CBFB Rearrangement Oncology FISH Probes INT 3020127 Cytogenetics Laboratory | |
| t(16;16)(p13.1;q22), inv(16)(p13.3q22) | MYH11::CBFB Fusion | Dual-Color Dual Fusion | CBFB::MYH11 Fusion, t(16;16)(p13.1;q22), inv(16)(p13.3q22), inv(16)/t(16;16) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory AML with CBFB::MYH11 fusion; Acute Myeloid Leukemia | |
| 17 centromere | CEP17, Trisomy 17 | Enumeration | +17, Trisomy 17, Hyperdiploidy Oncology FISH Probes INT 3020127 Cytogenetics Laboratory | |
| 17p13 | TP53 Deletion | Enumeration | Also available for plasma cell disorders (3002737) | del(17)(p13.1) (TP53) Deletion, TP53 (p53) Deletion Oncology FISH Probes INT 3020127 Cytogenetics Laboratory CLL; SLL; Chronic Lymphocytic Leukemia; Chronic Lymphocytic lymphoma; Small lymphocytic lymphoma; Small lymphocytic leukemia; Chronic lymphoblastic; Small lymphoblastic; Plasma cell neoplasms; multiple myeloma; MGUS; Smoldering Myeloma; Plasma cell dyscrasias; MM |
| 17q21.1q21.2 | RARA Rearrangement (non-NY approved) | Breakapart | 17q21.1q21.2 (RARA) Breakapart, RARA Rearrangement Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Acute Myeloid Leukemia (AML) Acute Promyelocytic Leukemia (APL) | |
| 18q21 | MALT Rearrangement | Breakapart | Oncology FISH Probes INT 3020127 Cytogenetics Laboratory 18q21 (MALT) Breakapart, MALT1 Rearrangement Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (EMZL, aka MALT lymphoma) | |
| 19p13.3 | TCF3 (E2A) Rearrangement | Breakapart | 19p13.3 (TCF3) Breakapart, TCF3 (E2A) Rearrangement Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Acute Lymphoblastic Leukemia (ALL); B-ALL/LBL with TCF3 rearrangement | |
| 19p13.2 | EPOR Rearrangement | Breakapart | 19p13.2 (EPOR) Breakapart, EPOR Rearrangement Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Philadelphia-like (Ph-like) B-ALL/LBL; Ph-Like Acute Lymphoblastic Leukemia (ALL) | |
| 20q12q13 | D20S108/MYBL2 Deletion | Enumeration | 20q12 (D20S108) Deletion, Loss/Deletion 20q, del(20q), with 20q13 (MYBL2) Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Myelodysplastic neoplasms (MDN); Myelodysplastic syndrome (MDS) | |
| 21q22 | RUNX1 Rearrangement | Breakapart | 21q22 (RUNX1) Breakapart, RUNX1 Rearrangement, iAMP21, +21 Oncology FISH Probes INT 3020127 Cytogenetics Laboratory | |
| 21q22 | RUNX1 Amplification, with 12p13 (ETV6) | Dual-Color Single Fusion | 21q22 (RUNX1) amp, with 12p13 (ETV6), iAMP21 Oncology FISH Probes INT 3020127 Cytogenetics Laboratory | |
| t(X/Y;14)(p22/p11;q32) | IGH::CRLF2 Fusion | Dual-Color Dual Fusion | Oncology FISH Probes INT 3020127 Cytogenetics Laboratory | |
| Xp22/Yp11 | CRLF2 Rearrangement/Partial Deletion | Breakapart | Xp22/Yp11 (CRLF2) Breakaprt/Deletion, CRLF2 Rearrangement, CRLF2 5' Deletion/P2RY8::CRLF2 Fusion Oncology FISH Probes INT 3020127 Cytogenetics Laboratory Philadelphia-like (Ph-like) B-ALL/LBL; Ph-Like Acute Lymphoblastic Leukemia (ALL) | |
| Xp22/Yp11 | P2RY8 Rearrangement/Partial Deletion | Breakapart | Xp22/Yp11 (CRLF2) Breakaprt/Deletion, CRLF2 Rearrangement, CRLF2 5' Deletion/P2RY8::CRLF2 Fusion Oncology FISH Probes INT 3020127 Cytogenetics Laboratory | |
| X/Y centromere | DXZ1/DYZ3 (CEP X/Y), BMT | Enumeration | X and Y centromere (CEP X/Y), DXZ1, DYZ3 Oncology FISH Probes INT 3020127 Cytogenetics Laboratory | |
Oncology Cytology
Performed in the ARUP Cytology Laboratory
| Test Number | Test Name | Probe Target/Unique Sequences | |
|---|---|---|---|
| 2002528 | Pancreatobiliary FISH | Aneuploidy for chromosomes 3, 7, and 17, and loss of the 9p21 locus. | Oncology Cytology ARUP Cytology Laboratory |
| 3016627 | Bladder Cancer by FISH | Aneuploidy for chromosomes 3, 7, and 17, and loss of the 9p21 locus. | Oncology Cytology ARUP Cytology Laboratory |
Oncology Paraffin Block
Performed in the ARUP Immunohistochemistry Laboratory
| Test Number | Test Name | |
|---|---|---|
| 3019126 | 11q Aberrations by FISH | Oncology StudiesFISH—Paraffin Block Immunohistochemistry Laboratory |
| 3001309 | 1p/19q Deletion by FISH | Oncology Studies, FISH—Paraffin Block, 1p19q, Oncology, Paraffin, Brain Tumors, Tumor Immunohistochemistry Laboratory |
| 3001495 | Aggressive B-Cell Lymphoma Reflex Panel by FISH, Tissue | Oncology StudiesFISH—Paraffin Block Immunohistochemistry Laboratory |
| 3001302 | ALK Gene Rearrangements by FISH | Oncology StudiesFISH—Paraffin Block Immunohistochemistry Laboratory |
| 3001311 | BCL6 (3q27) Gene Rearrangement by FISH | Oncology StudiesFISH—Paraffin Block Immunohistochemistry Laboratory |
| 3005916 | CIC (19q13.2) Gene Rearrangement by FISH | Oncology StudiesFISH—Paraffin Block Immunohistochemistry Laboratory |
| 3001304 | DDIT3 (CHOP) (12q13) Gene Rearrangement by FISH | Oncology Studies, FISH—Paraffin Block, CHOPFISH, Sarcoma, myxoid liposarcoma, round cell liposarcoma Immunohistochemistry Laboratory |
| 3001310 | EGFR Gene Amplification by FISH | Oncology Studies, FISH—Paraffin Block, EGFRFISH, Head and Neck Cancer, Lung Cancer, Brain Tumors Immunohistochemistry Laboratory |
| 2008603 | ERBB2 (HER2) Gene Amplification by FISH with Reflex, Tissue | Oncology Studies, FISH—Paraffin Block, HER2FISH, Breast Cancer, Tumor Markers, FISH, herceptin, HER2, HER-2, neu, HER2/neu, pathvision, pathvysion Immunohistochemistry Laboratory |
| 3001305 | EWSR1 (22q12) Gene Rearrangement by FISH | Oncology Studies, FISH—Paraffin Block, EWSR1, Ewing Sarcoma, Sarcoma, Tumor Markers Immunohistochemistry Laboratory |
| 3004075 | FGFR1 Gene Amplification by FISH | Oncology Studies, FISH—Paraffin Block, CHOPFISH, Sarcoma, myxoid liposarcoma, round cell liposarcoma Immunohistochemistry Laboratory |
| 3001297 | FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH | Oncology Studies, FISH—Paraffin Block, FKHRFISH, Sarcoma, FOX, FOXO1, 13q14, alveolar rhabdomyosarcoma Immunohistochemistry Laboratory |
| 3000548 | FUS (16p11) Gene Rearrangement by FISH | Oncology StudiesFISH—Paraffin Block Immunohistochemistry Laboratory |
| 3019135 | High-Grade B-Cell Lymphoma Reflex Panel by FISH, Tissue | Oncology StudiesFISH—Paraffin Block Immunohistochemistry Laboratory |
| 3001298 | IGH::BCL2 Fusion, t(14;18) by FISH | Oncology Studies, FISH—Paraffin Block, B-Cell Lymphomas, Follicular lymphoma, Diffuse large B-cell lymphoma, FISH Immunohistochemistry Laboratory |
| 3001306 | IGH::CCND1 Fusion, t(11;14) by FISH | Oncology Studies, FISH—Paraffin Block, Mantle cell lymphoma, B-Cell Lymphomas, Plasma cell dyscrasias, Tumor Markers Immunohistochemistry Laboratory |
| 3001299 | IGH::MYC Fusion t(8;14) by FISH | Oncology Studies, FISH—Paraffin Block, Burkitt lymphoma, B-Cell Lymphomas Immunohistochemistry Laboratory |
| 3001568 | IRF4/DUSP22 (6p25) Gene Rearrangement by FISH | Oncology StudiesFISH—Paraffin Block Immunohistochemistry Laboratory |
| 3001301 | MDM2 Gene Amplification by FISH | Oncology Studies, FISH—Paraffin Block, MDM2 FISH, Sarcoma, Tumor Markers, MDM2, Murine Double Minute 2 Immunohistochemistry Laboratory |
| 3001313 | MET Gene Amplification by FISH | Oncology Studies, FISH—Paraffin Block, MET Gene Amplification by FISH Immunohistochemistry Laboratory |
| 3001300 | MYC (8q24) Gene Rearrangement by FISH | Oncology Studies, FISH—Paraffin Block, Burkitt lymphomas, B-Cell Lymphomas, Double Hit lymphomas, Tumor Immunohistochemistry Laboratory Markers |
| 3001307 | MYCN (N-MYC) Gene Amplification by FISH | Oncology Studies, FISH—Paraffin Block, NMYC, Neuroblastoma, Tumor Markers Immunohistochemistry Laboratory |
| 3006357 | NR4A3 Rearrangement by FISH | Oncology Studies, FISH—Paraffin Block, CHOPFISH, Sarcoma, myxoid liposarcoma, round cell liposarcoma Immunohistochemistry Laboratory |
| 3001312 | RET Gene Rearrangements by FISH | Oncology StudiesFISH—Paraffin Block Immunohistochemistry Laboratory |
| 3001308 | ROS1 by FISH | Oncology StudiesFISH—Paraffin Block Immunohistochemistry Laboratory |
| 3001303 | SS18 (SYT) (18q11) Gene Rearrangement by FISH | Oncology StudiesFISH—Paraffin Block Immunohistochemistry Laboratory |
| 3002633 | TFE3 Gene Rearrangement by FISH | Oncology Studies, FISH—Paraffin Block, CHOPFISH, Sarcoma, myxoid liposarcoma, round cell liposarcoma Immunohistochemistry Laboratory |
Constitutional FISH
Interphase FISH - Aneuploidy Detection
Performed in the ARUP Cytogenetics Laboratory
| Suspected Diagnosis | Probe Target | Gene(s)/Unique Sequence | Test code |
|---|---|---|---|
| Aneuploidy, common | 13/18/21/X/Y | Trisomy 13, Trisomy 18, Trisomy 21, Monosomy X, XXX, XXY, XYY | 0040208 0040203 2002297 FISH Constitutional Aneuploidy Panels |
| Test Number | Test Name | Additional Information | Test code |
|---|---|---|---|
| 0040208 | Aneuploidy Panel by FISH (13, 18, 21, X, & Y—newborn whole blood) | 0040208 Aneuploidy Panel by FISH (13, 18, 21, X, & Y—newborn whole blood) Trisomy 13, Trisomy 18, Trisomy 21, Monosomy X, XXX, XXY, XYY | |
| 0040203 | Chorionic Villus, FISH (13, 18, 21, X, & Y—CVS) | 0040203 FISH Constitutional Aneuploidy Panels Aneuploidy Panel 13, 18, 21, X Trisomy 13, Trisomy 18, Trisomy 21, Monosomy X, XXX, XXY, XYY | |
| 2002297 | Chromosome FISH, Prenatal (13, 18, 21, X, & Y—Amniotic Fluid) | 2002297 Aneuploidy Panel 13, 18, 21, X Trisomy 13, Trisomy 18, Trisomy 21, Monosomy X, XXX, XXY, XYY | |
| 3020127 | FISH Interphase (X/Y) |
| 13, 18, 21, X Trisomy 13, Trisomy 18, Trisomy 21, Monosomy X, XXX, XXY, XYY |
Aneuploidy Reflex Panels
| Test Number | Test Name | Additional Information | Test code |
|---|---|---|---|
| 2011130 | Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray | Chorionic Villus, FISH (13, 18, 21, X, & Y—CVS) 2002297 Aneuploidy Panel 13, 18, 21, X Trisomy 13, Trisomy 18, Trisomy 21, Monosomy X, XXX, XXY, XYY | |
| 2011131 | Chorionic Villus with Reflex to Chromosome Analysis or Genomic Microarray | Chorionic Villus, FISH (13, 18, 21, X, & Y—CVS) 2002297 Aneuploidy Panel 13, 18, 21, X Trisomy 13, Trisomy 18, Trisomy 21, Monosomy X, XXX, XXY, XYY |
Metaphase FISH - Microdeletion/Microduplication Syndromes
Performed in the ARUP Cytogenetics Laboratory
| Test Number | Test Name | Additional Information | |
|---|---|---|---|
| 2002299 | Chromosome FISH, Metaphase | 2002299 Chromosome FISH, Metaphase |
| Suspected Diagnosis | Probe Target | Gene(s)/Unique Sequence | Test code |
|---|---|---|---|
| 4p- | 4p16.3 | WHSC1 | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| 5p- | 5p15.2 | D5S23-D5S721 | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| 15q11.2-13 duplication | 15q11.2-13 | D15S11, D15S10 | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| 22qter deletion | 22q13.3 | 22qtel (SHANK3) | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| Angelman syndrome | 15q11.2-13 | D15S10 | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| Cri-du-chat syndrome | 5p15.2 | D5S23-D5S721 | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| DiGeorge syndrome | 22q11.2 | TUPLE-1 (HIRA) | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| Kallmann syndrome | Xp22.3 | KAL1 | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| Miller-Dieker syndrome (lissencephaly) | 17p13.3 | LIS1 | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| Phelan-McDermid syndrome | 22q13.3 | 22qtel (SHANK3) | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| Prader-Willi syndrome | 15q11.2-13 | D15S10 | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| Sex-determining Region Y (SRY) | Yp11.3 | SRY | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| SHOX | Xp22.3 | SHOX | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| Smith-Magenis syndrome | 17p11.2 | SHMT1, TOP3, FL11, LLGL1 | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| Steroid sulfatase deficiency (STS, X-linked ichthyosis) | Xp22.3 | STS | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| Velocardiofacial (VCF) syndrome | 22q11.2 | TUPLE-1 (HIRA) | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| Williams syndrome (elastin) | 7q11.23 | ELN, LIMK1, D7S613 | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| Wolf-Hirschhorn syndrome | 4p16.3 | WHSC1 | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
| X/Y centromere | DXZ1/DYZ3 (CEP X/Y) | Enumeration | Microdeletion Syndromes 2002299 Chromosome FISH, Metaphase Cytogenetics Laboratory |
