Chromosome Analysis of Hematologic Disorders

Chromosome Analysis of Hematologic Disorders

Chromosome analysis, also known as karyotyping, involves the study of normal and abnormal chromosomes and their relationship to disease. Identification of chromosomal abnormalities provides diagnostic, prognostic, and therapeutic guidance for a wide range of hematologic and other neoplasms. Chromosome analysis in acute leukemias, lymphomas, and chronic myeloid and lymphoid disorders is used to establish the exact nature of the acquired genetic change. In most leukemias and lymphomas, changes in chromosome number or chromosome structure are often observed. Rearrangements including translocations, inversions, and deletions can usually be detected by microscopy.

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    FISH Analysis

    FISH Analysis

    Fluorescence in situ hybridezation (FISH) can help identify subtle or sub-microscopic structural rearrangements, variant chromosomes, and low-frequency abnormalities that are not readily detectable by classical cytogenetics or in neoplasms that do not grow well in culture for classical chromosome analysis. FISH tests can be ordered as disease-specific panels, and probe sets within panels may be ordered individually for detection of single abnormalities. Probes are available on a global and tech-only basis.

    Probes Available at Tesis Labs

    Acute myeloid leukemia (AML) FISH Panel:

    Probes: 5q-, -5 (5p15.2, 5q33-34) | 7q-, -7 (7q31, Cen 7) | Trisomy 8 (Cen 8) | MLL (11q23) | RUNX 1T1/ RUNX1 (ETO/AML1) t(8;21) | PML/RARA t(15;17) | CBFB inv(16), t(16;16) Detects chromosome abnormalities associated which aid in diagnosis, prognosis and/or therapy selection in AML.

    BCR/ABL1 t(9;22)- Philadelphia chromosome, Philadelphia translocation

    Probes: ABL1 (9q34); BCR (22q11.2)

    Detects translocation 9;22 is seen in chronic myelogenous leukemia and acute lymphoblastic leukemia.

    Bladder Cancer FISH Panel:

    Probes: +3 (Cen3) | +7 (Cen7) | p16 (9p21) | +17 (Cen17)

    This test is used for initial diagnosis of bladder carcinoma in patients with hematuria and subsequent monitoring for tumor recurrence in patients previously diagnosed with bladder cancer.

    CCND1/IgH translocation Probes:

    CCND1/IgH t(11;14) Detection of t(11;14) in Mantle cell lymphoma and Non-Hodgkin’s lymphoma (NHL)

    Chronic lymphocytic leukemia (CLL) FISH Panel:

    Probes: ATM (11q22.3) | p53 (17p13.1) | Trisomy 12 (Cen 12) | 13q-/-13 (13q14, 13q34) | CCND1/IgH t(11; 14) | Detection of abnormalities seen in Chronic lymphocytic leukemia.

    Eosinophilia FISH Panel:

    Probes: PDGFRa, CHIC2, FIP1L1 (4q12) | PDGFRb (5q33) | FGFR1 (8p11) | CBFB inv(16), t(16;16) | The eosinophilia FISH panel is used to aid in the diagnosis of myeloid and lymphoid neoplasms with eosinophilia and prediction of therapeutic response.

    HER2 Breast Cancer FISH:

    Probes: HER2 (17q11.2-q12) | 17 (Cen 17)

    HER2 FISH in breast tissue is used to determine the HER2 amplification status that can be a useful adjunct indicator of prognosis and can assist in the selection of patients for whom Herceptin (Trastuzumab) treatment is being considered.

    Myelodysplastic syndrome (MDS) FISH Panel:

    Probes: 5q-, -5 (5p15, 5q31, 5q33) | 7q-, -7 (Cen 7, 7q22, 7q31) | Trisomy 8 (Cen 8) | MLL  (11q23) | 20q- (20q12, 20qter)

    The MDS FISH Panel identifies the most frequent cytogenetc abnormalities associated with favorable , intermediate , and poor risk according to Revised International Prognostic Scoring System (IPSS-R) guidelines.

    Non-Hodgkin’s Lymphoma (NHL) FISH Panel:

    Probes: | BCL6 (3q27) | MYC (8q24) | CCND1/IgH t(11;14) | IgH (14q32) | IgH/BCL2 t(14;18) |

    The NHL FISH panel is used for the detection of chromosome aberrations observed in lymphoma.

    Plasma cell myeloma, multiple myeloma(MM) FISH Panel:

    Probes: 1p-, 1q+, iso(1q): CDKN2C (1p32), CKS1B (1q21) | FGFR3/IgH t(4;14) | CCND1/IgH t(11;14) | 13q- (13q14, 13 q34) | IgH/MAF t(14;16) | IgH/MAFB t(14;20) |17p- (TP53 17p13.1, NF1 17q11.2) |

    This panel may be useful for prognostic purposes in Plasma cell myeloma and multiple myeloma. It has predominantly non – favorable prognostic markers with the exception of t(11;14) which is generally considered to be a standard risk and may help guide therapy.

    Sample Types

    Sample Types

    Bone marrow or peripheral blood.

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