Cytogenetics Website
Available FISH tests
General tests:
Whole chromosome paints (all chromosomes)
Centromere specific probes (most chromosomes)
Sub-telomeric specific probe screen (referrals from Clinical Genetics only)
Microdeletion/duplication syndromes
- DiGeorge/VCFS (22q11.2)
- Prader Willi/Angelman syndromes (15q11-13)
- Williams syndrome (elastin gene 7q11.23)
- Smith Magenis (FLI1 and RAI1 probes) & Miller Dieker syndromes (17p11.2 & 17p13)
- Wolf Hirschhorn & Cri du Chat syndromes (4p16.3 & 5p15.2)
- Retinoblastoma (13q14)
- WAGR (Wilms' tumour locus) (11p13)
- Sotos syndrome (NSD1 gene 5q35)
Other locus specific
- SRY Y chromosome (Yp11)
- Steroid sulphatase deficiency (STS) (Xp22.3)
- Kallman syndrome (Xp22.3)
- 1p36 microdeletion
- XIST (Xq13)
Aneuploidy screen (rapid Post-natal testing)
- Down syndrome
- Edwards syndrome
- Patau syndrome
- Sex chromosome aneuploidy (Selected cases)
Oncology
- N-MYC (2p23-24)
- C-MYC (8q24)
- BCR/ABL (9q34/22q11)
- MLL (11q23)
- TEL/AML1 (12p13/21q22)
- PML/RARA (15q22/17q21)
- Inv(16) AML M4 (16p13)
- 13q34
- IGH (14q32)
- GLI3 (12q13)
- EWSR1 (22q12)
- p53/MPO(17p12/17q23)
- p16 (9p21)
- 1p36/q25
- 19p13/q13
- SYT (18q11.2)
- PTEN (10q23)
- ALK (2p23)
- CHOP(12q13)
- FKHR(13q14)
- EVI (inv(3),3q26)
- FIP1L1- CHIC2- PDGFRA (4q12)
- MDM2 (12q15)
- RMSI (PAX7/FKHR) (1p36,13q14)
- RMSII (PAX3/FKHR) (2q35,13q14)
- EGR1 (5q31)
- FUS (16p11)
- IGH/BCL2 (14q32,18q21)
- MDS (7 centromere, 7q22, 7q35)
- AML/ETO (8q22/21q22)
- WT1 (11p13)
Other probes may be available nationally, please contact the laboratory for more details.
Last Updated 08/11/07