NEOPLASTIC DISORDERS - FLUORESCENCE IN SITU HYBRIDIZATION (FISH TESTS)

The MGL Cytogenetics Laboratory offers fluorescence in situ hybridization (FISH)-based assay for identifying translocations, deletions, inversions or trisomies associated with hematopoietic disorders.

Reasons for Referral:

Detection of specific chromosome rearrangements
Confirmation of rearrangements difficult to detect on conventional chromosome analysis
Assessment of minimal residual disease following treatment or bone marrow transplant

Testing Methodology:

FISH is the application of fluorescently labeled DNA molecules to metaphase chromosomes and interphase nuclei for the detection of chromosome abnormalities and alterations. It is a rapid, reliable and direct approach for diagnosis, prognosis and management of hematologic malignancies.

Specimen Requirements:

Bone marrow in sodium heparin (green-top) tubes:
Adult/Child: Minimum 3.0 -5.0 CC
Exception to the above are chronic granulocytic leukemia (CGL) and chronic lymphocytic leukemia (CLL), where a blood sample can yield adequate information. Peripheral blood is of use only when the white blood cell count is higher than 10,000 WBC/ml and at least 10% blasts.

Shipping and Handling:

All tubes must be labeled with the patient's name and date of birth, and a completed requisition form must accompany each sample. If the laboratory is billing the patient's insurance, please enclose a copy of the insurance card. Ship specimens for overnight delivery at ambient temperature. Please notify the laboratory of incoming samples.

Hematological Malignancies Tested:

Chronic Myeloid Leukemia (CML)
Acute Myeloid Leukemia (AML)
Myeloproliferative Disorders (MPD)
Acute Lymphoblastic Leukemia (ALL)
Lymphomas: Burkitt’s lymphoma, Hodgkin’s disease, non-Hodgkins lymphoma (NHL)
Lymphoproliferative Disorders (LPD): B- and T- lineage disorders

Abnormalities Tested:

Neoplasm	Cytogenetic Aberrations/Locus	Probe Name	Detection Parameters
*Chronic Myeloproliferative diseases*
Chronic myelogenous leukemia	t(9;22)(q34;q11.2)	BCR/ABL	Detects BCR / ABL gene rearrangement
Hypereosinophilic syndrome	4q12 deletion	CHIC2	Detects deletions of CHIC2
Polycythemia vera	t(9;22)(q34;q11.2)	BCR/ABL	Diagnosis requires exclusion of BCR / ABL gene rearrangement
Essential thrombocythemia	t(9;22)(q34;q11.2)	BCR/ABL	Diagnosis requires exclusion of BCR / ABL gene rearrangement
Myelodysplastic/myeloproliferative diseases
Chronic myelomonocytic leukemia	7cen	D7Z1	Detects monosomy 7
Myelodysplastic syndromes (MDS)
Myelodysplastic Disorder (MDS) FISH Panel (Probes can be ordered individually	5p15.2/5q31	D5S721, D5S23/EGR1	Detects deletions or other aberrations of chromosome 5
	7q11.23/7q31	ELN, LIMK1, D7S613, D7S486, D7S522	Detects deletions or other aberrations of chromosome 7
	8cen	D8Z2	Detects gain of chromosome 8
	20q12	D20S108	Detects deletions in the long arm of chromosome 20
	11q23	MLL	Detects MLL gene rearrangement
Acute myeloid leukemia (AML)
AML, FAB type M2	t(8;21)(q22;q22)	ETO/AML1	Detects ETO / AML1 gene rearrangement
Acute promyelocytic leukemia, FAB type M3	t(15;17)(q24;q21.1) and variants	PML/RARα	Detects PML and/or RARα gene rearrangement
AML, FAB type M4eo	inv(16)(p13q22) or t(16;16)(p13;q22)	CBFβ	Detects CBFβ gene rearrangement
AML with 11q23 abnormalities	11q23	MLL	Detects MLL gene rearrangement
AML and MDS, therapy related
Alkylating Agent Related	5p15.2/5q31	D5S721, D5S23/EGR1	Detects deletions or other aberrations of chromosome 5
Alkylating Agent Related	7q11.23/7q31	ELN, LIMK1, D7S613/D7S486, D7S522	Detects deletions or other aberrations of chromosome 7
Topoisomerase II inhibitor-related	11q23	MLL	Detects MLL gene rearrangement
Precursor B and T-cell Neoplasms
Precursor B-lymphoblastic leukemia/lymphoma (ALL)	t(9;22)(q34;q11.2)	BCR/ABL	Detects BCR / ABL gene rearrangement
	t(12;21)(p13;q22)	TEL/AML1	Detects TEL / AML1 gene rearrangement
	11q23 rearrangement	MLL	Detects MLL gene rearrangement
Precursor T-lymphoblastic leukemia/lymphoma	9q34	ABL	Detects ABL Precursor T-lymphoblastic gene amplification
Precursor T-lymphoblastic leukemia/lymphoma	9p21	p16	Detects deletion of the p16 gene
Mature B-cell Neoplasms Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL) FISH Panel (Probes can be ordered individually)	11q22.3	ATM
	12cen	D12Z3	Detects gain of chromosome 12
	13q14, 13q34	RB1, D13S319	Detects deletions of the RB1 region and loss of chromosome 13
	17p13.1	TP53	Detects deletions of the TP53 gene
	6q23	MYB	Detects deletions of chromosome 6q
	14q32	IGH	Detects translocations involving 14q32
Multiple myeloma (MM) FISH Panel (Probes can be ordered individually)	t(11;14)(q13;q32)	CCND1(BCL1)/IGH	Detects CCND1/IGH gene rearrangement
	13q14	RB1	Detects deletions of the RB1 region
	17p13.1	TP53	Detects deletions of the TP53 gene
Follicular lymphoma	t(14;18)(q32;q21)	IGH/BCL2	Detects IGH / BCL2 gene rearrangement
Mantle cell lymphoma	t(11;14)(q13;q32)	CCND1(BCL1)/IGH	Detects CCND1 ( BCL1 ) / IGH gene rearrangement
Burkitt lymphoma/leukemia	t(8;14)(q24.1;q32)	CMYC/IGH	Detects CMYC / IGH gene rearrangement

Turnaround Time:

5 days

CPT Codes and Prices:

Single probe: 88230, 88271, 88273, 88291
Dual probe: 88230, 88271, 88273, 88291
Multi probe: 88271x38, 88273, 88230, 88291

Forms:

>> Cancer Cytogenetics Requisition

Test Codes:

FISH Panels:
CLL (6q, 13q14, 13q34, cen12, 17p13, 11q23) - 8350
Multiple Myeloma (13q14, 17p, IgH) - 8355
FISH Analyses:
Gain 8 chromosome - 8385
Deletion 5: [MDS] FISH Analysis - 8710
Deletion 7: [MDS] FISH Analysis - 8715
Deletion 20q12: [MDS] FISH Analysis - 8720
ETO/AML1: t(8;21) [AML] FISH Analysis - 8725
CHIC2: Deleted 4q [hypereosinophilic syndrome] FISH Analysis - 8730
PML/RARA: t(15;17) [AML] FISH Analysis - 8735
CBFB: inv(16) [AML] FISH Analysis - 8740
MLL: 11q23 FISH Analysis - 8745
BCR/ABL: t(9;22) [CML/ALL/AML] FISH Analysis - 8750
TEL/AML1: t(12;21) [ALL] FISH Analysis - 8755
MYC translocation FISH Analysis - 8760
IGH/BCL2: t(14;18) [follicular lymphoma] FISH Analysis - 8765
IGH/CCND1: t(14;11) [mantle cell lymphoma] FISH Analysis - 8770