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Fluorescence In Situ Hybridization (FISH) Analysis

Fluorescence In Situ Hybridization (FISH) is a powerful molecular/cytogenetic technique that utilizes a fluorescent-labeled DNA probe to ascertain the presence or absence of a particular segment of DNA. It can be used to confirm or rule out small chromosome deletions, and to characterize subtle, complex chromosome rearrangements in interphase or metaphase cells.

Currently Genetics Center offers FISH analysis for the following microdeletion syndromes: Angelman syndrome, Prader-Willi syndrome, 22q11.2 deletion syndrome and Velocardiofacial syndrome.

The Genetics Center FISH laboratory is also equipped to test for many types of leukemia. We offer BCR/ABL testing for the Philadelphia chromosome (t(9;22)), which is found in about 99% of patients with CML. We offer testing for inv(16) which is found in 23% of AML-M4Eo patients. We also can detect the 15;17 translocation, which is found in about 97% of patients with APL.  Please see below for the complete list of available FISH probes.

If there is a test you require which is not listed, please contact us and speak to our laboratory personnel about available options.

Congenital FISH Testing

4p16.3 (Wolf-hirschorn syndrome)

5p15.2 (Cri du chat syndrome)

15q11-13 (Prader-Willi or Angelman syndrome)

22q11.2 (22q11.2 deletion syndrome)

Xp22.3 (STS or X-linked ichthyosis)

Xp22.3 (Kallman syndrome)

Sex Chromosomes

Yp11.3 (SRY)

Prenatal FISH Testing

Aneuploidy (13/21/18/X/Y)

Cep X/SRY

B-Cell Acute Lymphoblastic Leukemia (ALL)

Base Panel

t(9;22) ABL1/BCR

t(12;21) ETV6/RUNX1 (TEL/AML1)

11q23 KMT2A rearrangement (MLL)

Cep 4

Cep 10

 

Extended Panel

t(1;19) / t(17;19) PBX1/TCF3 and TCF3/HLF

9p21 CDKN2A (P16)

14q32 (IGH) rearrangement

Xp22.33/Yp11.32 (CRLF2) rearrangement

 

High Risk Panel

1q25.2 (ABL2) rearrangement

5q32 (PDGFRB) rearrangement

9q34.12 (ABL1) rearrangement

T-Cell Acute Lymphoblastic Leukemia (ALL)

t(9;22) ABL1/BCR

11q23 KMT2A rearrangement (MLL)

9p21 CDKN2A (P16)

Acute Myeloid Leukemia (AML)

+/- 5q

+/- 7q

inv(16) /t(16;16) MYH11/CBFB

t(8;21) RUNX1T1/RUNX1 (ETO/AML1)

11q23 KMT2A rearrangement (MLL)

Chronic Lymphocytic Leukemia (CLL)

13q14.3/13q34

Cep12

11q22.3 (ATM)

17p13.1 (P53)

 

 

Chronic Myelogenic Leukemia (CML)

t(9;22) ABL1/BCR

Cep 8

Myelodysplastic Syndrome (MDS)

+/- 5q

+/- 7q

Cep 8

20q12

 

 

T-Cell Lymphoma

+/- 7q

+8

9p21

11q23

14q32

Multiple Myeloma

13q14.3/13q34

Cep12

11q22.3 (ATM)

17p13.1 (P53)

t(11;14) CCND1/IGH

 

 

All Cancer FISH Probes

t(1;19) PBX1/TCF3

1q25.2 (ABL2) rearrangement

2p24.3 (MYCN)

2p23 (ALK) rearrangement

Cep 4

5q31 EGR1

5q32 (PDGFRB) rearrangement

7q31 (D7S522)

Cep 8

8q24 (MYC) rearrangement

t(8;21) ETO/AML1

9p21 CDKN2A (p16)

9q34.12 (ABL1) rearrangement

t(9;22) BCR/ABL1

Cep 10

11p15 (NUP98) rearrangement

11q22.3 (ATM)

11q23 (KMT2A [MLL]) rearrangement

t(11;14) CCND1/IGH

t(12;21) TEL/AML1 or ETV6/RUNX1

Cep12

13q14.3/13q34

13q14 (FOXO1 [FKHR]) rearrangement

t(15;17) PML/RARA

inv(16)/t(16;16) MYH11/CBFB

17p13.1 (P53)

18q11.2 (SYT) rearrangement

20q12

22q12 (EWSR1) rearrangement

Xp22.33/Yp11.32 CRLF2 rearrangement

Cep X / SRY (bone marrow engraftment)