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 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