Fluorescence in Situ Hybridization (FISH)

EPIC Test Name [order code]
FISH (Cytogenetics) (YMG) [LAB10402]

Fluorescence in Situ Hybridization (FISH) testing extends routine cytogenetic banding methods by resolving ambiguous diagnoses and providing another tool to diagnose submicroscopic and cryptic abnormalities. FISH is a relatively simple, fast, and reliable procedure. FISH testing can be performed independently or concurrently with other cytogenetics studies.

Applications of FISH in prenatal studies can include rapid detection of aneuploidies on directly prepared cells, or detection of recurrent constitutional microdeletion/microduplication syndromes from cultured cells. Average turnaround time for aneuploidy FISH is 1-3 days; microdeletion/microduplication FISH is 7-14 days.

NOTE: These studies may involve culturing of living cells; therefore, turnaround times given represent average times, which are subject to multiple variables.

FISH CPT codes:
FISH analysis may include 88230-88239, 88271-88275 and 88291. Contact lab for specific codes based on specimen type and exact testing being performed.

Fluorescence in Situ Hybridization (FISH) testing extends routine cytogenetic banding methods by resolving ambiguous diagnoses and providing another tool to diagnose submicroscopic and cryptic abnormalities. FISH is a relatively simple, fast, and reliable procedure. FISH testing can be performed independently or concurrently with other cytogenetics studies.

Applications of FISH for constitutional abnormalities include detection of origin of marker chromosomes, delineation of subtle rearrangements with the use of subtelomeric FISH probes, and confirmation of common microdeletion/duplication syndromes. Average turnaround time for routine FISH analysis is 3-14 days.

FISH tests for common microdeletion/duplication syndrome:

• Wolf-Hirschhorn syndrome (4p-)
• Cri-du-Chat syndrome (5p del)
• Saethre-Chotzen syndrome (7p21.1 del)
• Williams-Beuren syndrome (7q11.23 del)
• Pallister-Killian syndrome (12p++)
• Prader-Willi and Angelman syndromes (15q11.2 del)
• Smith-Magenis syndrome (17p11.2 del)
• Charcot-Marie-Tooth (17p12+)
• Hereditary neuropathy with lability to pressure palsies (HNPP, 17p12 del)
• Miller-Diecker/Lissencephaly (17p13 del)
• Cat-eye syndrome (22q11.2++)
• DiGeorge/Velocardiofacial/CATCH 22 (22q11.2 del)
• Phelan McDermid syndrome (22q13.3 del)
• STS/Steroid sulfatase/Ichthyosis and Kallman syndromes (Xp22.3 del)
• SRY, Sex reversal (Yp11.2+/-)
• XIST, X inactivation (Xq13)

NOTE: These studies involve culturing of living cells; therefore, turnaround times given represent average times, which are subject to multiple variables.

FISH CPT codes:
FISH analysis may include 88230-88239, 88271-88275 and 88291. Contact lab for specific codes based on specimen type and exact testing being performed.

Fluorescence in Situ Hybridization (FISH) testing extends routine cytogenetic banding methods by resolving ambiguous diagnoses and providing another tool to diagnose submicroscopic and cryptic abnormalities. FISH is a relatively simple, fast, and reliable procedure. FISH testing can be performed independently or concurrently with other cytogenetics studies.

Applications of FISH for hematologic disorders include delineation of chromosomal numerical abnormalities, detection of recurrent translocations and gene rearrangements, and determination of donor cell engraftment following sex-mismatched bone marrow and stem cell transplants. Disease-specific FISH panels for MDS, AML, B-ALL, CLL, MM/MGUS and lymphoma have been standardized to supplement routine chromosome analysis to screen for recurrent chromosome abnormalities. Average turnaround time is 2-7 days.

FISH CPT codes:
 FISH analysis may include 88230-88239, 88271-88275 and 88291. Contact lab for specific codes based on specimen type and exact testing being performed.

FISH panels:

ALL, B-cell/pre-B-cell Acute lymphoblastic leukemia/lymphoma
ALL panel: ABL1-BCR* t(9;22) ¦ KMT2A* (MLL) 11q23.3 ¦ ETV6-RUNX1* t(12;21) ¦ Trisomy 4*, 10*, 17 (CEP4, CEP10, CEP17)
Ph-like panel: ABL2* 1q25.2 ¦ PDGFRB* 5q33 ¦ JAK2 9p24.1 ¦ ABL1* 9q34.1 ¦ CRLF2 Xp22.3/Yp11.3
Available on request/reflex: TCF3-PBX1 (E2A-PBX1) t(1;19) ¦ MYC 8q24 ¦ 9p- (CDKN2A (p16) 9p21.3, D9Z3 9q12) ¦ IGH 14q32
*COG high-risk ALL required testing

ALL, T-cell Acute Lymphoblastic Leukemia/lymphoma
T-ALL panel: TLX3 5q35.1 ¦ TCRB 7q34 ¦ 9p- (CDKN2A (p16) 9p21.3, D9Z3 9q12) ¦ ABL1 9q34.1 ¦ TCRA/D 14q11

Lymphoma, T-cell
T-lymphoma panel: TCRB 7q34 ¦ 9p- (CDKN2A (p16) 9p21.3, D9Z3 9q12) ¦ TCRA/D 14q11

Lymphoma, B-cell
B-lymphoma panel: BCL6 3q27 ¦ MYC 8q24 ¦ IGH 14q32
Available on request/reflex: ALK 2p23 ¦ 7q-/-7 (RELN 7q22.1, TES 7q31.2) ¦ MYC-IGH t(8;14) ¦CCND1-IGH t(11;14) ¦ IGH-BCL2 t(14;18) ¦ BCL2 18q21 ¦ MALT 18q21

Lymphoma, Cutaneous T-cell, CTCL
CTCL panel:  MYC 8q24 ¦ 11q-/17p- (ATM 11q22.3, TP53 17p13.1) ¦ 13q- (RB1 13q14.2, CDC16 13q34) ¦ 9p- (CDKN2A (p16) 9p21.3, D9Z3 9q12) ¦ ARID1A 1p36.11, ZEB1 10p11.22, STAT3 17q21.2 ¦ DNMT3A 2p23.3, CARD11 7p22.2, FAS 10q23.31

Waldenstrom’s/LPL
Standard panel:  1p-, 1q+ (CDKN2C 1p32, CKS1B 1q21) ¦ BCL6 3q27 ¦ 6q- (6cen D6Z1, MYB 6q23) | MYC 8q24 ¦ Trisomy 9, 15, 17, hyperdiploidy (D9Z3 9q12, PML 15q24.1, TP53 17p13.1) ¦ 13q- (DLEU1 13q14.3, CDC16 13q34) ¦ IGH 14q32  

Multiple Myeloma (MM), Monoclonal Gammopathy (MGUS), Plasma Cell Neoplasms
MM/MGUS panel:  1p-, 1q+ (CDKN2C 1p32, CKS1B 1q21) ¦ Trisomy 9, 15, 17, hyperdiploidy (D9Z3 9q12, PML 15q24.1, TP53 17p13.1) ¦ 13q- (DLEU1 13q14.3, CDC16 13q34) ¦ IGH 14q32  
IGH partner panel/reflex: FGFR3-IGH t(4;14) | CCND3-IGH t(6;14) | CCND1-IGH t(11;14) | IGH-MAF t(14;16) | IGH-MAFB t(14;20)

CLL, Chronic Lymphocytic Leukemia
CLL panel:  11q-/17p- (ATM 11q22.3, TP53 17p13.1) | Trisomy 12/13q- (D12Z3 12cen, DLEU1 13q14.3, CDC16 13q34) | IGH 14q32  
Available on request/reflex: +3q (BCL6 3q27) | 6q- (6cen D6Z1, MYB 6q23) | +8 (MYC 8q24) | CCND1-IGH t(11;14)

T-cell PLL, Prolymphocytic Leukemia
T-PLL panel:  MYC 8q24 ¦ 11q-/17p- (ATM 11q22.3, TP53 17p13.1) | TCRA/D 14q11

B-cell PLL, Prolymphocytic Leukemia
B-PLL panel:  13q- (DLEU1 13q14.3, CDC16 13q34) ¦ IGH 14q32 ¦ 17p- (TP53 17p13.1, D17Z1 17cen)

MDS, Myelodysplastic Syndrome
MDS panel:  5q-/-5 (TAS2R1 5p15.3, EGR1 5q31.2) ¦ 7q-/-7 (RELN 7q22.1, TES 7q31.2) ¦ +8/20q- (MYC 8q24.2, PTPRT 20q12)

AML, Acute Myeloid Leukemia
AML panel: ABL1-BCR* t(9;22) ¦ KMT2A* (MLL) 11q23.3 ¦ RUNX1-RUNX1T1* t(8;21) ¦ NUP98* 11p15.4 ¦ PML-RARA t(15;17) ¦ CBFB-MYH11* inv(16)/t(16;16)
Available on request/reflex: MECOM (EVI1) 3q26.2 ¦ ETV6 12p13.2 ¦ GLIS2* 16p13.3
*COG AML required testing

CML, Chronic Myeloid Leukemia
CML: ABL1-BCR t(9;22)

MPN/MPD (unspecified), Myeloproliferative neoplasm/disorder
MPD panel: ABL1-BCR t(9;22) ¦ +8/20q- (MYC 8q24.2, PTPRT 20q12)

Polycythemia Vera
P.Vera panel: +8/20q- (MYC 8q24.2, PTPRT 20q12) ¦ 13q- (DLEU1 13q14.3, CDC16 13q34) ¦ 9p- (CDKN2A (p16) 9p21.3, D9Z3 9q12)

Primary Myelofibrosis
PMF panel: +8/20q- (MYC 8q24.2, PTPRT 20q12) ¦ 13q- (DLEU1 13q14.3, CDC16 13q34) ¦ 1p-, 1q+ (CDKN2C 1p32, CKS1B 1q21)

Mastocytosis/Mast cell disease       
            Mastocytosis: FIPIL1/CHIC/PDGFRA 4q12

Eosinophilia
Eosinophilia panel: FIPIL1/CHIC/PDGFRA 4q12 ¦ PDGFRB 5q32 ¦ FGFR1 8p11.2, D8Z2 8cen ¦ JAK2 9p24.1 ¦ ABL1 9q34.1 ¦ ETV6 12p13.2 ¦ FLT3 13q12.2 ¦ CBFB-MYH11 inv(16)/t(16;16)  

Rhabdomyosarcoma
Rhabdomyosarcoma panel: PAX7 1p36.13 ¦ PAX3 2q36.1

Neuroblastoma
Neuroblastoma: MYCN 2p24.3, AFF3 (LAF4) 2q11.2

Ewing Sarcoma
Ewing Sarcoma: EWSR1 22q12.2

Sex mis-match chimerism
XX/XY chimerism: DXZ1 Xcen, DYZ1 Yq12