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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, DiGeorge sequence, Velocardiofacial syndrome, Williams syndrome, Miller-Dieker syndrome and Smith-Magenis syndrome. We also perform whole chromosome painting for small translocations that cannot be visualized by conventional G-banding techniques.

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.

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

1p36 deletion syndrome

4p16.3 (Wolf-hirschorn syndrome)

5p15.2 (Cri du chat syndrome)

7q11.23 (Williams syndrome)

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

17p11.2 (Smith-Magenis syndrome)

17p13.3 (Miller-Dieker syndrome)

Xp22.3 (STS or X-linked ichthyosis)

Sex Chromosomes

Yp11.3 (SRY)

Prenatal FISH Testing

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

Cep X/SRY (rarely)

B-Cell Acute Lymphoblastic Leukemia (ALL)

t(9;22)

t(12;21)

11q23

Cep 4, Cep 10, Cep 17

T-Cell Acute Lymphoblastic Leukemia (ALL)

t(9;22)

11q23

9p21

Acute Myeloid Leukemia (AML)

+/- 5q

+/- 7q

inv(16)

t(8;21)

11q23

Chronic Lymphocytic Leukemia (CLL)

13q14.3/13q34/Cep12

11q22.3/17p13.1

 

 

Chronic Myelogenic Leukemia (CML)

t(9;22)

Cep 8

Myelodysplastic Syndrome (MDS)

+/- 5q

+/- 7q

Cep 8

20q12

 

 

T-Cell Lymphoma

+/- 7q

+8

9p21

11q23

14q32

Non-Hodgkin Lymphoma

t(11;14) (IGH/CCND1)

3q27 (BCL 6)

11q22.3/17p13.1 (p53)

t(14;18)

 

Multiple Myeloma

13q14.3/13q34/Cep12

11q22.3/17p13.1

t(11;14)

 

 

All Cancer FISH Probes

t(1;19) PBX1/TCF3

2p23 ALK

Cep 4,10, 17

5q31 EGR1

7q31

Cep 8

8q24 MYC

t(8;14) MYC/IGH

t(8;21) ETO/AML1

9p21 gene name p16

t(9;22) BCR/ABL1

11q23 MLL

t(11;14) CCND1/IGH

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

13q14.3/13q34/Cep12 (CLL or Multiple Myeloma panel)

13q14 FKHR

t(14;18) IGH/BCL2

t(15;17) PML/RARA

inv(16)

17p13.1/11q22.3 (CLL or Multiple Myeloma panel)

18q11.2 SYT

20q12

22q12 EWSR1

Cep X / SRY (bone marrow engraphment–rare)