Neoplastic

Diagnostic Cytogenetics, Inc. completes most neoplastic studies within 24 hours.  Extended cultures are performed based on patient diagnosis. This individualized approach allows us to identify abnormalities that may otherwise not be seen.

 

  • Chromosome Analysis

    Indication for Testing

    • To confirm and characterize hematological disorders.
    • To stage the disease process.
    • To monitor course of treatment of leukemia and lymphoma.
    • To confirm remission or relapse.

     

    Abnormalities Detected

    Chromosome Analysis Detects:

    • Aneuploidy (monosomy, trisomy)
    • Deletions and duplications (>5Mb)
    • Translocations
    • Inversions

    Chromosome Analysis Does Not Detect:

    • Deletions or duplications that are too small to be seen by microscope (<5Mb)

     

    Methodology

    20 G-banded cells are completely analyzed and 2 to 4 karyograms are prepared. Additional chromosome analysis and special banding techniques are employed as needed.

     

    Specimen Culturing

    To increase diagnostic accuracy, DCI utilizes specialized culture systems to enhance the detection of chromosome abnormalities in the neoplastic cells.   Cell cultures are based on clinical information received, therefore turnaround time varies by indication.

     

    • Myeloid cases:  Overnight unstimulated cell cultures are established.

    • CLL cases:  Overnight and 48 hr DSP-30/IL-2 stimulated cell cultures are established. The DSP-30/IL-2 stimulated culture increases the abnormality rate in CLL patients dramatically, from <5% to well over 60%. For peripheral blood specimens we also initiate a 96 hr PHA/IL2 culture.

    • B-cell Lymphoma cases: Overnight and 72 hr DSP-30/IL2 cell cultures are established. DSP-30/IL2 is added to act as a mitogen for the large B-cells to improve diagnostic sensitivity and increase discovery rate for novel diagnostic findings.

    • T-cell leukemia/lymphoma cases: Overnight and 72 hr PHA/IL2 cultures are established. PHA is added to act as a mitogen for the T-cells, which don’t always divide spontaneously in culture

    • Myeloma cases:  Overnight and 72 hr IL-4 cultures are established. IL-4 stimulates the proliferation of activated B-cells and their differentiation into plasma cells, which improves the likelihood of finding an abnormal cell clone.

    • FISH for myeloma cases is performed on cells selected using CD-138 labeled magnetic bead technology.

  • FISH Testing

    For paraffin embedded tissue, see our FFPE page.  For our complete test menu, see our FISH page.

    FISH for myeloma cases is performed on cells selected using CD-138 labeled magnetic bead technology.

    PML/RARA Rapid FISH

    DCI offers rapid FISH for the PML/RARA probe.  If a sample for this testing arrives before 11AM, results are available the same day.

    The results of the PML/RARA probe for t(15;17)(q24;q21) are critical for cases of suspected AML.  A positive result indicates a diagnosis of acute promyelocytic leukemia (APL), which is associated with the risk of potentially life-threatening disseminated intravascular coagulation.

     

    Neoplastic FISH Panels

    Panels can be customized upon request- please inquire for more details.

     

    Panel Probe Target Abnormality
    ALL panel IGH/MYC/CEP8 t(8;14)(q24;q32), trisomy 8
    CDKN2A/CEP9 9p21 (p16) deletion
    BCR/ABL t(9;22)(q34;q11.2)
    MLL 11q23 rearrangements
    TEL/AML1 t(12;21)(p13;q22)
    AML panel D7S522/D7Z1 7q31 deletion/ monosomy 7
    D8Z2 Trisomy 8
    AML1/ETO t(8;21)(q21.3;q22)
    MLL 11q23 rearrangements
    PML/RARA t(15;17)(q24;q21)
    CBFB t(16;16)/ inv(16)(q22)
    CLL panel ATM 11q22.3 deletion
    D12Z3 Trisomy 12
    D13S319/LAMP1 13q34 deletion/ monosomy 13
    TP53 17p13.1 deletion
        *IGH/CCND1 t(11;14)(q13;q32)
    CML panel BCR/ABL1 t(9;22)(q34;q11.2)
        *9q34 9q34 deletion
    Eosinophilia panel PDGFRA-FIP1L1 4q12 deletion/rearrangement
    PDGFRB 5q33 rearrangements
    FGFR1 8p11.23-p11.22 rearrangements
    MDS panel EGR1/D5S23 5q31 deletion/ monosomy 5
    D7S522/D7Z1 7q31 deletion/ monosomy 7
    D8Z2 Trisomy 8
    D20S108 20q12 deletion
    MM panel CKS1B/CDKN2C Gain of 1q21.3 / loss of 1p32.3
    IGH/FGFR3 t(4;14)(p16;q32)
    D13S319/LAMP1 13q34 deletion/ monosomy 13
    TP53 17p13.1 deletion
        *D5S23/D5S721, CEP 9, CEP 15 Hyperdiploidy for chromosomes 5, 9, 15
        *IGH/CCND1 t(11;14)(q13;q32)
        *IGH Breakapart 14q32 rearrangements
        *IGH/MAF t(14;16)(q32;q23)
    MPD panel PDGFRA-FIP1L1 4q12 deletion/rearrangement
    PDGFRB 5q33 rearrangements
    D8Z2 Trisomy 8
    BCR/ABL1 t(9;22)(q34;q11.2)
    D13S319/LAMP1 13q34 deletion/ monosomy 13
    D20S108 20q12 deletion
    NHL panel BCL6 3q27 rearrangements
    MYC BAP 8q24 rearrangements
    IGH/CCND1 t(11;14)(q13;q32)
    BIRC3/MALT1 t(11;18)(q21;q21)
    IGH/BCL2 t(14;18)(q32;q21)
    Urovysion panel CEP 3 Chromosome 3 aneuploidy
    CEP 7 Chromosome 7 aneuploidy
    p16 Loss of 9p21
    CEP 17 Chromosome 17 aneuploidy

    *Probes that can be added to customize panel upon request

     

    Neoplastic FISH Probes (Organized by chromosome)

    If you are interested in a probe not on this list, please contact us about adding the probe to our menu.

    For a list of probes offered on FFPE slides, please see our paraffin embedded tissue page.

    Probe Target Abnormality
    CKS1B/CDKN2C Gain of 1q21.3 / loss of 1p32.3
    ALK 2p23 rearrangements
    EVI1 3q26.2 rearrangements
    BCL6 3q27 rearrangements
    PDGFRA-FIP1L1 4q12 deletion/rearrangement
    IGH/FGFR3 t(4;14)(p16;q32)
    D5S23/D5S721, CEP 9, CEP 15 Hyperdiploidy for chromosomes 5, 9, 15
    EGR1/D5S23 5q31 deletion/ monosomy 5
    PDGFRB 5q33 rearrangements
    MYB 6q23 deletion
    D7S522/D7Z1 7q31 deletion/ monosomy 7
    D8Z2 Trisomy 8
    FGFR1 8p11.23-p11.22 rearrangements
    AML1/ETO t(8;21)(q21.3;q22)
    IGH/MYC/CEP8 t(8;14)(q24;q32), trisomy 8
    MYC Breakapart 8q24 rearrangements
    CDKN2A/CEP9 9p21 (p16) deletion
    BCR/ABL1 t(9;22)(q34;q11.2)
    9q34 9q34 deletion
    IGH/CCND1 t(11;14)(q13;q32)
    BIRC3/MALT1 t(11;18)(q21;q21)
    ATM 11q22.3 deletion
    MLL 11q23 rearrangements
    ETV6 12p13.1 rearrangements/deletions
    TEL/AML1 t(12;21)(p13;q22)
    D12Z3 Trisomy 12
    FOXO1 13q14 rearrangements
    D13S319/LAMP1 13q34 deletion/ monosomy 13
    TCR alpha/delta 14q11.2 rearrangements
    IGH Breakapart 14q32 rearrangements
    IGH/MAF t(14;16)(q32;q23)
    IGH/BCL2 t(14;18)(q32;q21)
    PML/RARA t(15;17)(q24;q21)
    CBFB t(16;16)/ inv(16)(q22)
    TP53 17p13.1 deletion
    RARA Breakapart 17q21 rearrangements
    D20S108 20q12 deletion
    EWSR1 22q12 rearrangements

  • Test Information

    Test Turnaround Time* CPT Codes**
    Chromosome Analysis- multiple myeloma, lymphoma 3 days 88237, 88264, 88280×4, 88285, 88291
    Chromosome Analysis- CLL 2 days 88237, 88264, 88280×4, 88291
    Chromosome Analysis- ALL, AML, MDS, all other indications 24 hours 88237, 88264, 88280×4, 88291
    Interphase FISH 24 hours 88377
    Metaphase FISH 24 hours 88377
    ALL FISH panel 24 hours 88377×5
    AML FISH panel 24 hours 88377×6
    CLL FISH panel 24 hours 88377×2
    CML FISH panel 24 hours 88377
    Eosinophilia FISH panel 24 hours 88377×3
    MDS FISH panel 24 hours 88377×3
    MM FISH panel (on CD138+ enriched cells) 2 days 88112, 88377×4
    MPD FISH panel 24 hours 88377×5
    NHL FISH panel 24 hours 88377×5
    Urovysion FISH panel 3 days or less 88120
    PML/RARA rapid FISH Same day (if received before 11AM) 88377
    Additional Codes Added for FISH Only Cases 88237, 88291

    *All turnaround times are business days from specimen receipt to report issued.  Averages include weekends and holidays.

    **Some codes may vary or be charged in multiple units, depending on patient-specific testing parameters.

    If no cells are available for analysis, only set up fees will be billed.

     

    Sample reports

    Normal Chromosome Analysis Report

    Abnormal Chromosome Analysis Report

    Normal FISH Report

    Abnormal FISH Report

  • Submitting a Sample

    Specimen Requirements

     

    Bone Marrow: Aspirate 1-2 ml bone marrow into a sterile syringe containing 0.1 ml preservative free sodium heparin invert syringe to mix and transfer to a 3 ml preservative free sodium-heparin (green-top) vacutainer tube.

    Leukemic Peripheral Blood: Patient should have WBC of 15,000 or higher with approximately 10% circulating immature myeloid or lymphoid blast cells. Collect 5 ml of peripheral blood in a preservative free sodium-heparin (green top) vacutainer tube.

    Lymph Node/Spleen/Tonsil Biopsy: >5 mm3 tumor biopsy collected under aseptic conditions and transported in sterile tissue culture media.

    Urine: Mix >50ml voided urine 2:1 (v:v) with preservative; Carbowax (2% polyethylene glycol in 50% ethanol) or PreservCyt preservatives are recommended. Transfer to a 50 mL centrifuge tube(s) or other tightly-capped plastic container. If urine is not shipped immediately after collection, refrigerate immediately and ship via overnight courier within 24 hours.

     

    For more information, please see our Specimen Requirements and Shipping Information pages.

     

    Click here for our neoplastic request form and insurance pre-authorization form.

     

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