Fluorescence In Situ Hybridization (FISH) Tests

Neoplasm Cytogenetic aberration/Locus Probe name Detection parameters
Solid tumours
Breast cancer 17p11.1-q11.1
17q11.2-q12
Her-2/neu Detects amplification of the HER-2/neu gene
Lung cancer 7p12
7p11.1-q11.1
EGFR/ CEP7 Detects amplification of EGFR gene
2p23 ALK Detects ALK gene rearrangements
6q22 ROS1 Detects ROS1 gene rearrangements
Diffuse Malignant Peritoneal Mesothelioma 9p21 p16/CDKN2A Detects homozygous deletion of p16/CDKN2A
Neuroblastoma 2p24
2p11.1-q11
NMYC Detects NMYC gene amplification
Oligodendroglial tumours 1p 19q Detects co-deletion of 1p 19q
Sarcomas
Ewing sarcoma 22q12 EWSR Detects EWSR1 gene rearrangement
Alveolar rhabdomyosarcoma 13q14 FOXO1 Detects rearrangements of FOXO1 gene
Soft tissue sarcoma 16p11 FUS Detects rearrangement of FUS gene
Synovial sarcoma 18q11.2 SS18 Detects rearrangement of SS18 gene
Liposarcoma 12q15
12p11.1-q11
MDM2/ CEP12 Detects MDM2 amplification
Myxoid liposarcoma 12q13 DDIT3 Detects rearrangement of DDIT3 gene

 

Neoplasm Cytogenetic aberration/Locus Probe name Detection parameters
Chronic Myeloproliferative diseases
Chronic myelogenous leukemia t(9;22)(q34;q11.2) BCR/ABL Detects BCR/ABL gene rearrangements
Hypereosinophilic syndrome
Probes can be ordered separately
4q12 (PDGFRA) FIP1L1-CHIC2-PDGFRA Detects deletion of CHIC2 and  juxtapositioning of FIP1L1 and PDGFRA and other rearrangements of the 4q12 region
5q33 (PDGFRB) PDGFRB Detects rearrangement of PDGFRB
8p21 (FGFR1) FGFR1 Detects rearrangement of FGFR1
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 syndromes (MDS)
Myelodysplastic Disorder
(MDS) FISH Panel
(Probes can be ordered
individually)
11q23 MLL Detects MLL gene rearrangement/deletion 11q
5p15/5q31/5q33 D5S721/ CTNNA1/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 deletion in long arm chr 20
Acute myeloid leukemia (AML)
Acute myeloid leukemia (AML) t(8;21)(q22;q22) RUNX1/RUNX1T1 Detects RUNX1/RUNX1T1 gene rearrangement
Inv(16)(p13q22) or t(16;16)(p13q22) CBFß Detects CBFß gene rearrangement
11q23 MLL Detects MLL gene rearrangement
20q12 D20S108 Detects deletion in long arm of chromosome 20
5q31 EGR1/D5S23, D5S721 Detects deletion in long arm of chromosome 5
7q31 D7S486/ CEP 7 Detects deletion in long arm of chromosome 7
Acute promyelocytic leukemia, FAB type M3 t(15;17)(q24;q21.1) and variants PML/RARα Detects PML and/or RARα gene rearrangement

 

Precursor B-lymphoblastic leukemia
B-ALL Philadelphia chromosome Children & Adults BCR/ABL Detects BCR/ABL gene rearrangements
11q23 rearrangements
Most common in infants
MLL Detects MLL gene rearrangement
t(12;21)(p13;q22) Children ETV6/RUNX1 Detects ETV6/RUNX1 gene rearrangement
t(1;19)(q23;p13) Adults TCF3/PBX1 Detects TCF3/PBX1 gene rearrangement
Mature B-cell Neoplasms
Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL) FISH Panel
(Probe set 1)
(Probe sets can be ordered individually)
11q22.3 ATM Detects deletions of the
ATM gene
17p13.1 TP53 Detects deletions of the TP53 gene
Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL) FISH Panel
(Probe set 2)
(Probe sets can be ordered individually)
13q34 LAMP1 Distinguishes between del(13q) and monosomy 13
12cen D12Z3 Detects gain of chromosome 12
13q14 D13S319 Detects deletions of D13S319 locus
Multiple myeloma (MM) FISH
Primary panel
(Probes can be ordered
individually)
1p32.3
1q21
CDKN2C
CKS1B
Detects deletion of CDKN2C
Detects gain/amplification of CKS1B
17p13.1 TP53 Detects deletions of the
TP53 gene
14q32 IGH Detects IGH/FGFR3 rearrangement
Multiple Myeloma
Reflex panel – IGH rearranged
t(4;14)(p16;q32) IGH/FGFR3 Detects IGH/FGFR3 rearrangement
t(14;16)(q32;q23) IGH/MAF Detects IGH/MAF rearrangement
t(14;20)(q32;q12) IGH/MAF-B Detects IGH/MAF-B rearrangement

 

Non-Hodgkins Lymphoma Cytogenetic aberration/locus Probe name Detection parameters
Extranodal marginal zone B cell lymphoma (MALT lymphoma) t(11;18)(q21;q21) API2/MALT1 Detects API2/MALT1 gene rearrangement
Follicular lymphoma t(14;18)(q32;q21) IGH/BCL2 Detects IGH/BCL2 gene rearrangement
Mantle cell lymphoma t(11;14)(q13;q32) CCND1/IGH Detects CCND1/IGH gene arrangement
Diffuse large B-cell lymphoma 3q27 BCL6 Detects BCL6 rearrangement
8q24 MYC Detects MYC  rearrangements
18q21 BCL2 Detects BCL2  rearrangements
Burkitt’s lymphoma t(8;14)(q24;q32) and variants MYC/IGH Detects MYC and/or IGH gene rearrangements
Anaplastic lymphoma 2p23 ALK Detects ALK gene rearrangement

 

Tissue type Cytogenetic locus Probe name Detection parameters
Amniotic fluid/chorionic villi/cord blood(Probe sets can be ordered individually)
Whole panel:
4760 + 4760×5
Xp11.1-q11.1
Yp11.1-q11.1
18p11.1.-q11.1
CEP X
CEP Y
CEP 18
Detects copy number changes for chromosomes X, Y and 18
13q14
21q22.13-q22.2
RB1
D21S259, D21S341, D21S342
Detects copy number changes for chromosomes 13 and 21

 

Microdeletion Syndrome Cytogenetic locus Probe name Detection parameters
Williams 7q11.23
7q31
ELN
D7S486, D7S522
Detects deletion of 7q11.23 that contains the elastin gene ELN
Prader-Willi/Angelman 15p11.2
15q11-q13
15q22-q24
CEP 15
UBE3A/SNRPN
PML
Detects deletions of 15q11-q13 that contains the UBE3A/SNRPN gene
Miller-Dieker 17p13.3
17q21.1
LIS1
RARA
Detects deletions of 17p13.3 that contains the lissencephaly gene LIS1
22q Deletion 22q11.2
22q13.3
TUPLE1(HIRA)
22q TEL
Detects deletions of 22q11.2 that contains the TUPLE1 (HIRA) gene (aka the CATCH-22 region)

Dear valued supporters and suppliers

As the total effect of the COVID-19 lockdown becomes clear and the knock-on effect of this action is realized, Unistel Medical Laboratories has pro-actively put procedures in place to firstly ensure the absolute safety of staff and secondly to ensure the seamless continued functioning of the laboratory to provide essential diagnostic testing. No patient services, cytogenetic, Fluorescence in Situ Hybridization (FISH) and DNA testing can or will be compromised as this is an essential critical service. Staff will ensure services continue by working in non-overlapping shifts, keep social distance and completing as much analysis and reporting work electronically from home.

Unistel Medical Laboratories is committed to the huge effort to restrict the spread of COVID-19, but will also continue to provide essential world-class diagnostic and DNA testing services.

The veterinary diagnostic services will be continued on the same basis.

As all supporters will realize the turn-around time for results may be compromised slightly, but rest assured, Unistel Medical Laboratories will still do our level best to maintain timely service.