FISH

Diagnostic Cytogenetics, Inc. offers a wide menu of probes for fluorescent in situ hybridization (FISH) testing. Most FISH studies are completed within 24 hours.  Preliminary verbal results are available for STAT cases on weekends.

 

  • FISH Panels

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

    Neoplastic FISH Panels

    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

     

    Aneuvysion FISH Panel

    Aneuvysion FISH can be performed on prenatal samples for rapid detection of the most common chromosome gains and losses seen prenatally.

    Aneuvysion FISH testing is suggested for the following indications:

    • Late gestation pregnancies that require a rapid result.
    • Rapid confirmation of an abnormal prenatal screening result
    • Detection of fetal abnormality on ultrasound that suggest aneuploidy of chromosomes X, Y, 13 18, or 21.
    • Newborn with multiple anomalies that suggest aneuploidy of chromosomes X, Y, 13, 18, or 21.

     

    Probe Target Abnormality
    RB1 Trisomy 13
    D18Z1 Trisomy 18
    D21S259 Trisomy 21
    DXZ1 Sex Chromosome Aneuploidy
    DYZ3 Sex Chromosome Aneuploidy

     

    Preliminary results are available on an average of 24 hours after specimen receipt in laboratory.

    FISH results are considered preliminary until confirmed by classical cytogenetic analysis.

     

    Limitations

    • Rapid aneuploid screening provides only numerical information about selected chromosomes. It is not designed to detect structural rearrangements, mosaicism, or other numerical abnormalities.

    • The results from this technique are considered preliminary and cytogenetic analysis must also be ordered on all samples.

    • Amniotic fluid samples contaminated with blood may be excluded.

    • When the specimen volume is not sufficient to meet the minimum requirements for processing both FISH and standard cytogenetic procedures, chromosome analysis will take precedence.

    • FISH assays may not be informative if the specimen quality and/or slide preparation is inadequate.

    • Amniotic fluid samples from early gestation pregnancies may not contain enough cells for informative results in the FISH analysis.

    • Amniotic fluid samples from late gestation pregnancies may contain excess debris, which could make the FISH assay uninformative.

     

    POC Aneuploidy FISH Panel

    The POC Aneuploidy Fluorescent In Situ Hybridization (FISH) panel detects the most common chromosome gains and losses seen prenatally. This FISH panel can be performed on saved cells to rule out these aneuploidies on fetal tissue samples that do not grow adequately enough in culture to perform a chromosome analysis. It can also be ordered concurrently with cytogenetic analysis if rapid results are desired.

     

    Probe Target Abnormality
    RB1 Trisomy 13
    16qhet Trisomy 16
    D18Z1 Trisomy 18
    D21S259 Trisomy 21
    BCR Trisomy 22
    DXZ1 Sex Chromosome Aneuploidy
    DYZ3 Sex Chromosome Aneuploidy

     

  • FISH Probes

    For FISH analyses available on paraffin embedded tissue, see our FFPE page.

     

    Methodology

    Fluorescence in-situ Hybridization (FISH) utilizes DNA probes that bind to a specific region of a chromosome. These probes produce bright colored signals that are examined on a fluorescence microscope. For metaphase FISH, ten to fifty cells are scored (depending on the probe used). For interphase FISH, two hundred cells are scored.

    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 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.

    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

     

    Microdeletion/Microduplication Syndrome Probes

     

    FISH on metaphase cells can also be performed to identify the following microdeletion/microduplication syndromes:

    Syndrome Name Chromosome Location Probe/Gene Locus
    Wolf-Hirschhorn syndrome 4p16.3 D4S96
    Cri du chat syndrome 5p15.2 D5S23
    Williams syndrome 7q11.23 Elastin
    Retinoblastoma 13q14.2 RB1
    Prader-Willi/Angelman syndrome 15q11.2-q13 SNRPN/D15S10
    Smith-Magenis syndrome 17p11.2 FLI1 and RAI1
    Miller-Dieker syndrome 17p13.3 LIS1
    22q11.2 Deletion Syndrome (DiGeorge, Velocardiofacial Syndrome) 22q11.2 TUPLE1 (D22S553, D22S609, D22S942)
    Steroid Sulfatase Deficiency/X-linked Ichthyosis Xp22.3 STS
    Kallmann Syndrome 1 Xp22.3 KAL1

     

     

    Subtelomeric Probes

    Subtelomeric FISH is useful for detecting subtle or submicroscopic deletions at the terminal chromosome regions in patients with unexplained intellectual disability (ID) or developmental delay (DD). This test may also detect duplications and balanced rearrangements involving these terminal chromosome regions.

    Subtelomeric testing will only be performed subsequent to normal cytogenetic analysis. This testing is performed on metaphase cells.

     

  • Test Information

    Test Turnaround Time* CPT Codes**
    Interphase FISH 24 hours 88377
    Metaphase FISH Reported alongside chromosome analysis 88377
    AneuVysion- prenatal samples 24 hours for preliminary results,7-10 days for final report 88377×2
    AneuVysion- peripheral blood samples 24 hours for preliminary results,5-7 days for final report 88377×2
    POC Aneuploidy FISH 24 hours 88377×3
    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 (performed 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
    Neoplastic FISH Only Cases – Additional Codes Added 88237, 88291

    *All turnaround times are business days from specimen receipt to report issued.

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

    If no cells are available for analysis, no analysis charges will be incurred.

     

    Sample reports

    Normal Aneuvysion FISH Report

    Abnormal Aneuvysion FISH Report

    Normal POC Aneuploidy FISH Report

    Abnormal POC Aneuploidy FISH Report

    Normal Neoplastic FISH Report

    Abnormal Neoplastic FISH Report

     

  • Submitting a Sample

    Specimen Requirements

     

    For information, please see the requirements for the relevant specimen type on our Specimen Requirements and Shipping Information pages.

     

    Click here for our neoplastic request form, paraffin-embedded tissue request form, or constitutional request form and our neoplastic insurance pre-authorization form or consitutional insurance pre-authorization form.

     

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