Testing
The LSI dual break-apart rearrangement probe contains two differently labelled probes on either sides of the breakpoint of the ROS1 gene. ROS1 has multiple fusion partners including but not limited…
Learn more
Learn more
The LSI dual break-apart rearragement probe contains two differently labelled probes on either sides of the breakpoint of the ALK gene. ALK has multiple fusion partners including NPM in anaplastic…
Learn more
Learn more
F IGH MALT1
Translocation (11;18)(q21;q21) has been associated with extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma). Translocation (11;18) leads to the fusion of the apoptosis inhibitor-2 (API2) gene and… IGH/MALT1 t(14;18)
Learn more
F AML ETO
The t(8;21)(q22;q22) is found in 12% of all acute myeloid leukemia (AML) cases, including 40–50% of AML M2 subtype and a small portion of M0, M1 and M4 subtypes of… AML1(RUNX1)/ETO(RUNXT1) t(8;21)
Learn more
FP IGH MALT1
Translocation (11;18)(q21;q21) has been associated with extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma). Translocation (11;18) leads to the fusion of the apoptosis inhibitor-2 (API2) gene and… IGH/MALT1 t(14;18), paraffin
Learn more
This small, multiprobe panel contributes to the distinction of Burkitt’s from large B-cell lymphoma on problematic specimens demonstrating borderline morphologic or immunophenotypic features, limited sample volume, or zero to low…
Learn more
Learn more
F TEL AML1
TEL/AML1 (also known as ETV6/RUNX1) translocation is the most frequent genetic abnormality in childhood B-acute lymphoblastic leukemia (ALL) found in 20-30% of cases. The t(12;21) involves the TEL gene on… TEL(ETV6)/AML1(RUNX1) t(12;21)*
Learn more
This small, multiprobe panel contributes to the distinction of Burkitt’s from large B-cell lymphoma on problematic specimens demonstrating borderline morphologic or immunophenotypic features, limited sample volume, or zero to low…
Learn more
Learn more
Mantle cell lymphoma can be difficult to distinguish morphologically from other B-cell malignant lymphomas. The translocation probe is designed to detect the juxtaposition of the IGH locus (14q32) next to…
Learn more
Learn more
F CBFB
Structural abnormalities of chromosome 16 involving the CBFB locus have been identified in a specific group of patients with acute myelomonocytic leukemia (AML) type M4 with marked eosinophilia. Inversion 16,… CBFB t(16;16), inv(16)
Learn more
Her2/neu, also known as erbB2 or HER2, plays a key role in the regulation of cell growth. HER2 is over expressed through gene amplification in 25-30% of breast cancer patients.…
Learn more
Learn more
Leukemias are a diverse group of diseases often characterized by multiple genetic aberrations distributed across the genome. In some cases, the same genetic aberrations are shared by different types of…
Learn more
Learn more
Mantle cell lymphoma can be difficult to distinguish morphologically from other B-cell malignant lymphomas. The translocation probe is designed to detect the juxtaposition of the IGH locus (14q32) next to…
Learn more
Learn more
F API MALT
MALT lymphomas (also known as extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue) constitute about 8% of all non-Hodgkin lymphomas. The most common structural abnormality associated with MALT lymphomas… API2(BIRC3)/MALT1 t(11;18)*
Learn more
F IGH MAF
The t(14;16)(q32;q23) is detectable in 2–10% of patients with plasma cell myeloma and in about 25% of myeloma cell lines. The t(14;16)(q32;q23) is difficult to detect by conventional karyotypes. Although… IGH/MAF t(14;16)
Learn more
+3,+7,+17, del(9)(p21) is recommended for the evaluation of patients with hematuria who are suspected of having bladder cancer and for monitoring patients for tumor recurrence. An important advantage in the…
Learn more
Learn more
FP HER2 GA
The FDA recently approved trastuzumab (Herceptin, Genentech) for use in combination with cisplatin and capecitabine or 5-fluorouracil to treat patients with human epidermal growth factor receptor 2 (HER2)-over expressing (also… HER2/neu gastric cancer, paraffin
Learn more
DiGeorge syndrome is a rare congenital disease caused by a large deletion from chromosome 22, produced by an error in recombination at meiosis. This deletion indicates a loss of several…
Learn more
Learn more
X-linked recessive ichthyosis is caused by a deletion of the steroid sulfatase gene located on the X chromosome at the p22.3 location. The abnormality is seen more in males and…
Learn more
Learn more
Mixed lineage leukemia (MLL) abnormalities are frequently found in infant leukemias and therapy-related leukemias. The MLL gene encodes a DNA-binding protein that methylates histone H3 lysine 4 (H3K4), and positively…
Learn more
Learn more
F BCL6
The B-cell lymphoma 6 (BCL6) gene is localized to 3q27. Rearrangements of 3q27 may be seen in case diffuse large B-cell lymphoma (30-40%) and follicular lymphoma (5-15%). Structural rearrangements include… BCL6 3q27 Rearrangement
Learn more
Cytogenetic studies using chromosome analysis and interphase fluorescence in situ hybridization (FISH) are routine procedures for prognostic stratification of plasma cell myeloma. Several cytogenetic abnormalities such as t(4;14), del(17/17p), t(14;16),…
Learn more
Learn more
Translocation (11;18)(q21;q21) has been associated with extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma). Translocation (11;18) leads to the fusion of the apoptosis inhibitor-2 (API2) gene and…
Learn more
Learn more
Trisomy 13, trisomy 18 and trisomy 21, and numerical errors of the sex chromosomes (X and Y) constitute the most common chromosome abnormalities observed at prenatal diagnosis. DNA probes specific…
Learn more
Learn more
B-cell chronic lymphocytic leukemia (B-CLL) is the most common leukemia in the elderly population. With conventional cytogenetic (CC) analysis, ~50% of CLL cases show clonal aberrations. Using FISH, the percentage…
Learn more
Learn more
The B-cell lymphoma 6 (BCL6) gene is localized to 3q27. Rearrangements of 3q27 may be seen in case diffuse large B-cell lymphoma (30-40%) and follicular lymphoma (5-15%). Structural rearrangements include…
Learn more
Learn more
Miller-Dieker syndrome is caused by a deletion on the short arm of chromosome 17, specifically a deletion of the LIS1 gene.
Learn more
Learn more
Angelman syndrome is a complex genetic disorder related to chromosome 15. Mutations in the UBE3A gene cause Angelman syndrome. People normally inherit one copy of the UBE3A gene from each…
Learn more
Learn more
Smith-Magenis Syndrome, causing deletion of the short arm of chromosome 17, affects 1 in 15,000 to 1 in 25,000 individuals
Learn more
Learn more
Cri-du-chat syndrome is a rare genetic condition caused by the deletion of genetic material on the small arm of chromosome 5. Cri-du-chat syndrome occurs in an estimated 1 in 20,000…
Learn more
Learn more
Wolf-Hirschhorn syndrome, causing deletion of the short arm of chromosome 4, affects approximately 1 in 50,000 births.
Learn more
Learn more
Prader-Willi syndrome (PWS), a rare neurogenetic disorder, represents the most common syndromatic obesity. Loss of the paternal genes on a specific region of chromosome 15 is the cause of this…
Learn more
Learn more
Sequence alterations of the EGFR gene have frequently been identified in non-small cell lung carcinoma (NSCLC), primarily in those patients who were responsive to Gefitinib, an EGFR tyrosine kinase inhibitor.…
Learn more
Learn more
FP IGH MYC
The t(8;14)(q32;q24) joins the cellular oncogenes C-MYC with sequences from immunoglobulin heavy chain gene enhancers leading to deregulated expression of C-MYC protein. This abnormality is characteristic of Burkitt lymphoma and… IGH/MYC t(8;14)*, paraffin
Learn more
F IGH MYC
The t(8;14)(q32;q24) joins the cellular oncogenes C-MYC with sequences from immunoglobulin heavy chain gene enhancers leading to deregulated expression of C-MYC protein. This abnormality is characteristic of Burkitt lymphoma and… IGH/MYC t(8;14)*
Learn more
A group of pre-leukemic diseases, myeloproliferative disorders are characterized by a clonal expansion of one or more lineages of the myelo-erythroid series of which polycythaemia vera, essential thrombocythaemia and idiopathic…
Learn more
Learn more
FP BCL2
BCL2 blocks apoptosis and maintains long-term immune responsiveness including B-cell memory. The most frequent non-random chromosome rearrangement in non-Hodgkin lymphoma (NHL) of B-cell type is t(14;18)(q32;q21), which is found in… IGH/BCL2 t(14;18), paraffin
Learn more
Clonal chromosome abnormalities are found at diagnosis in about 60% of patients with de novo MDS and almost 85% of those with AML or secondary MDS. The FISH profile used…
Learn more
Learn more
Synovial sarcomas (SS), which account for 5-10% of soft tissue sarcomas, are seen mainly in adolescents and adults aged between 15 and 45 years. More than 85-95% of them arise…
Learn more
Learn more
F MYB
This abnormality has been associated with childhood acute lymphoblastic leukemia (ALL), adult ALL, B-cell small lymphocytic lymphoma, atypical chronic lymphocytic leukemia and plasma cell myeloma. FISH can detect this rearrangement… MYB 6q deletion
Learn more
An interstitial deletion of chromosome 5, del(5q), is associated with MDS/MPD and AML. Involvement of chromosome 5 is found in 40% of therapy-related myeloid disorders, whereas it is found in…
Learn more
Learn more
F P53
The p53 tumor suppressor gene is one of the most frequently mutated genes in human cancer with mutations and deletions identified in a wide range of solid tumors and hematological… TP53 17p13 deletion
Learn more
Trisomy 13, trisomy 18 and trisomy 21, and numerical errors of the sex chromosomes (X and Y) constitute the most common chromosome abnormalities observed at prenatal diagnosis. DNA probes specific…
Learn more
Learn more
Williams syndrome is a rare genetic disorder found in approximately 1 in 7,500-20,000 people. A deletion on chromosome 7 is the cause for the disorder. This region includes several genes…
Learn more
Learn more
F MALT1
Translocation (11;18)(q21;q21) has been associated with extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma). Translocation (11;18) leads to the fusion of the apoptosis inhibitor-2 (API2) gene and… MALT1 18q21 rearrangement
Learn more
F FGFR3
The t(4;14) translocation is found in approximately 10% of myeloma patients and results in the deregulation of at least two genes, MMSET and fibroblast growth factor receptor 3 (FGFR3), with… IGH/FGFR3 t(4;14)
Learn more
Kallmann syndrome is a clinically and genetically heterogeneous disorder, characterized by isolated hypogonadotropic hypogonadism and anosmia or hyposmia. The KAL1 gene is located on the short arm of the X…
Learn more
Learn more
Rearrangements involving the IGH gene have been identified in about 50% of non-Hodgkin B-cell lymphomas (NHLs) and correlated to clinically relevant subgroups. A t(14;18)(q32;q21) is found in 88.1% of follicular…
Learn more
Learn more
Rearrangements involving the IGH gene have been identified in about 50% of non-Hodgkin B-cell lymphomas (NHLs) and correlated to clinically relevant subgroups. A t(14;18)(q32;q21) is found in 88.1% of follicular…
Learn more
Learn more
Deletions of the long arm of chromosome 20 represent a common chromosomal abnormality associated with myeloid disorders, in particular with myeloproliferative disorders (MPD), myelodysplastic syndromes (MDS) and acute myeloid leukemia…
Learn more
Learn more
F T5T9T15
Aneuploidy is a frequent finding in plasma cell myeloma. Approximately 60-70% of myeloma cases have been reported to have hyperdiploid clones. About 10-20% have been reported to have pseudodiploid clones,… Trisomy 5, 9, 15
Learn more
FP API MALT1
MALT lymphomas (also known as extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue) constitute about 8% of all non-Hodgkin lymphomas. The most common structural abnormality associated with MALT lymphomas… API2(BIRC3)/MALT1 t(11;18)*, paraffin
Learn more
F T8
Trisomy 8 is relatively specific for myeloid disorders and is rarely observed in lymphoid disease. It is found in 10-15% of patients with acute myeloid leukemia (AML), 15-20% of patients… Trisomy 8
Learn more
F CMYC
Translocations of chromosome 8 are common aberrations in the B-cell non-Hodgkin lymphoma group. The presence of the typical t(8;14) or the rare variants t(8;22) and t(2;8) has been confirmed in… C MYC 8q24 Rearrangement
Learn more
F T12
Trisomy 12 is among the more common recurring chromosomal defects in chronic lymphocytic leukemia (CLL). It has been reported in 15–30% of cases and is correlated with atypical morphology. FISH… Trisomy 12
Learn more
Deletions of chromosome 1p and 19q arms are frequent genetic abnormalities in primary human gliomas and are especially common in oligodendrogliomas. While 1p deletions are relatively common in other types…
Learn more
Learn more
F T21
An extra copy of chromosome 21 is the cause of Down syndrome. An increase risk is seen with the increase in maternal age. Trisomy 21*
Learn more
F PDGFRB
This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. A translocation between chromosomes 5 and 12, that fuses this gene to that… PDGFRB Gene Rearrangement
Learn more
Translocations of chromosome 8 are common aberrations in the B-cell non-Hodgkin lymphoma group. The presence of the typical t(8;14) or the rare variants t(8;22) and t(2;8) has been confirmed in…
Learn more
Learn more
Deletions of the long arm of chromosome 7 or monosomy 7 represent a common chromosomal abnormality associated with myeloid disorders, in particular with myelodysplastic syndromes (MDS) and acute myeloid leukemia…
Learn more
Learn more
