FISH Probe Testing


  • Disease(s): AML-M2
    Probe Information
    Type: Dual Fusion Probe
    Manufacturer: Cytocell
    AML1 (RUNX1): 21q22.12 (red)
    ETO (RUNX1T1): 8q21.3 (green)
    Clinical Significance
    This rearrangement is observed in ~40% of AML M2 patients and less frequently in subgroups M1 and M4.
    AML1 is the most common target for translocations in acute myeloid leukemia.
    Overall 7% of AML cases demonstrate this abnormality, the majority of which are de novo.
    Complete remission occurs in most cases (90%); but relapse is frequent.
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): Chronic Lymphocytic Leukemia
    Probe Information
    Type: Combination of Locus Specific probes
    Manufacturer: Cytocell
    ATM: 11q22.3 (green)
    p53: 17p13.1 (red)
    Clinical Significance
    Deletions of ATM and p53 are both associated with rapid disease progression and short survival.
    p53 is a tumor suppressor gene and its product, the p53 protein, is responsible for the death of DNA damaged cells thought to be brought about by its phosphorylation and subsequent removal of its inhibition by MDM2.
    ATM gene is an important checkpoint gene involved in cell damage management and its function is to assess the level of DNA damage have encountered during phosphorylation
    Deletion of ATM removes the checkpoint activity and hence activation of the p53 gene, therefore no apoptosis of damaged cells.
    Deletion of ATM and p53 are the most serious rearrangements involved in CLL, showing a poor prognosis
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium
    heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): CML, ALL, and MPN
    Probe Information
    Type: Dual Fusion Plus Probe
    Manufacturer: Cytocell
    BCR: 22q11 (green)
    ABL1: 9q34 (red)
    ASS1: 9q34 (aqua)
    Clinical Significance
    BCR/ABL1 fusion is the hallmark of chronic myelogenous leukemia and typically consists of an initial chronic phase and an accelerated phase terminating in blast crisis.
    Treatment with the protein tyrosine kinase inhibitor, imatinib mesylate (Gleevec) has resulted in good cytogenetic and hematologic responses in all phases with improved survival in later stages of the disease.
    Deletion of chromosome 9 and 22 concurrent with t(9;22) have a worse prognosis.
    Also seen in ALL and AML and is associated with poor prognosis
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): B-cell non-Hodgkin lymphomas (B-cell NHL), diffuse large B-cell lymphoma, Follicular lymphoma.
    Probe Information
    Type: Breakapart Probe
    Manufacturer: Cytocell
    BCL6: 3q27.3 (red)
    BCL6: 3q27.3 (green)
    Clinical Significance
    Approximately 40% of diffuse large B-cell lymphomas and 5 to 10% of follicular lymphomas are associated with chromosomal translocations that deregulate expression of BCL6 by juxtaposing heterologous promoters to the BCL6 coding domain.
    The translocation of the gene BCL6 is generally considered to be a better prognosis if there is increased expression.
    Abnormalities of BCL6 seen in CML, Breast cancer, Bladder transitional cell carcinoma, Soft tissue tumors, Neuroblastoma, Gastric cancer, and Multiple myeloma.
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): AML, AMML (AML-M4Eo), MDS
    Probe Information
    Type: Dual Fusion Probe
    Manufacturer: Cytocell
    CBFβ: 16q22.1 (red)
    MYH11: 16p13.11 (green)
    Clinical Significance
    Seen in 5-10% of AML patients, with a complete remission rate relatively high and the prognosis is better than most of the AML associated abnormalities
    Seen in 9% of ANLL and MDS patients with patients under the age of 55 having a better outcome
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium
    heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): Mantle Cell lymphoma, NHL
    Probe Information
    Type: Dual Fusion Probe
    Manufacturer: Cytocell
    CCND1: 11q13.3 (red)
    IGH: 14q32.33 (green)
    Clinical Significance
    Abnormalities occur as a result of overexpression of cyclin-D1 and occurs in 53-93% of mantle cell lymphoma and NHL 10-25% occurrence in multiple myeloma
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): ALL, ANLL, Waldenstrom’s Macroglobulinema
    Probe Information
    Type: Satellite Enumeration Probe
    Manufacturer: Cytocell
    CEP 4: 4p11.1-q11.1 (green)
    Clinical Significance
    Can present as a sole abnormality or seen in conjunction with trisomy 10 and 17
    High hyperdiploidy of 4,10,17 are associated with favorable prognosis in children with B-progenitor cell acute lymphoblastic leukemia
    Trisomy 4 with c-Kit mutation is associated with a rapid disease progression in patients with ANLL
    Additional chromosome 4 seen in 18% of patients diagnosed with Waldenstrom’s Macroglobulinema
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): AML, MDS, ALL
    Probe Information
    Type: Satellite Enumeration Probe
    Manufacturer: Cytocell
    CEP 7: 7p11.1-q11.1 (green)
    Clinical Significance
    Usually seen in conjunction with other abnormalities, but trisomy 7 can be seen as a sole abnormalities, although rare Monosomy 7 is common diagnosis in MDS and AML, frequently seen after treatment with cytotoxic cancer therapy or from environmental mutagens
    -7 found in 5% of de novo cases and 40% of secondary cases of AML; children with MDS showing a deletion of whole or part of chromosome 7 in 4 to 5% of cases.
    Considered a poor prognostic event
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): CML, MDS, AML, ALL, NHL
    Probe Information
    Type: Satellite Enumeration Probe
    Manufacturer: Cytocell
    CEP 8: 8p11.1-q11.1 (red)
    Clinical Significance
    +8 is one of the major anomalies additionally to t(9;22), i(17q), and +der(22) in about 25% of CML cases
    +8 found in 15-20% of MDS cases, with 5-10% treatment related
    Trisomy 8 found in 10-15% of AML cases and seen in all FAB subgroups at grossly equivalent percentages
    As a sole abnormality, +8 in AML patients show complete remission in 60-70% of patients with a median survival of about a year
    Lower percentages of +8 found in ALL and non-Hodgkin Lymphoma
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium
    heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): CMPD, AML, MDS, B/T-cell ALL
    Probe Information
    Type: Satellite Enumeration Probe
    Manufacturer: Cytocell
    CEP 9: 9p11.1-q11.1 (red)
    Clinical Significance
    +9 usually seen in conjunction with del 20q, +8, and del 13q at a rate of about 10% in CMPD
    Found in M2, M4, and M5 subgroups of AML and rarely seen as a sole abnormality
    Intermediate prognosis that becomes more inferior as the complexity increases
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium
    heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): ALL, AML, MDS, Acute Biphenotypic Leukemia
    Probe Information
    Type: Satellite Enumeration Probe
    Manufacturer: Cytocell
    CEP 10: 10p11.1-q11.1 (aqua)
    Clinical Significance
    Found in ALL, AML, MDS, and Acute Biphenotypic Leukemia escribed as the sole abnormality with a poor prognosis
    Aggressively, fast growing gliomas are found to show a loss of all or part of chromosome 10
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): CLL
    Probe Information
    Type: Satellite Enumeration Probe
    Manufacturer: Cytocell
    CEP 12: 12p11.1-q11.1 (aqua)
    Clinical Significance
    Trisomy 12 is the most common cytogenetic change in CLL
    Observed in 33% of CLL cases by chromosome analysis and 12-54% by FISH
    Trisomy 12 as a sole anomaly is associated with an intermediate prognosis
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): AML, MM
    Probe Information
    Type: Satellite Enumeration Probe
    Manufacturer: Cytocell
    CEP 15: 15p11.1-q11.1 (green)
    Clinical Significance
    In MM trisomy 15 is the second most commonly observed trisomy found in 37% of patients
    The size of the clone directly correlates with disease status Monosomy 15 is possible in MDS, but usually seen in conjunction with a complex karyotype
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): MM, Neuroblastoma, ALL
    Probe Information
    Type: Satellite Enumeration Probe
    Manufacturer: Cytocell
    CEP 17: 17p11.1-q11.1 (red)
    Clinical Significance
    Monosomy 17 also found in 13% of Multiple myeloma patients Gain of chromosome 17 is associated with a better survival rate than a loss of chromosome 17, which is considered a poor prognosis due to the involvement of the p53 gene.
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): Lymphoma, NHL, B-ALL
    Probe Information
    Type: Breakapart Probe
    Manufacturer: Cytocell
    cMYC: 8q24.21 (red)
    cMYC: 8q24.21 (green)
    Clinical Significance
    Rearrangement of the cMYC loci is common in B-ALL and Burkitt’s lymphoma, usually with IGH, IGL, or IGK
    Amplification of cMYC gene is found in breast, cervical, and colon cancers, as well as in squamous cell carcinomas of the head and neck, myeloma, non-Hodgkin lymphoma, gastric adenocarcinomas and ovarian cancer
    Poor response to therapies, with rapid progression
    Median survival is about 11 months
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): AML, MDS
    Probe Information
    Type: Deletion Probe
    Manufacturer: Cytocell
    EGR1: 5q31.2 (red)
    Control: 5p15.31 (green)
    Clinical Significance
    Deletion of a region of 5q which includes EGR1 is the most common rearrangement in AML and MDS
    Abnormalities of chromosome 5 are found in 42% of therapy related MDS cases
    5q- median survival ranges from 53 to 146 months, showing a very favorable prognosis in AML
    In MDS the 5q-, when a part of a more complex karyotype, shows unfavorable prognosis
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): AML, MDS
    Probe Information
    Type: Deletion Probe
    Manufacturer: Cytocell
    RELN: 7q22 (red)
    Control: 7q31 (green)
    Clinical Significance
    Abnormalities of chromosome 7 common in myeloid malignancies
    5-10% AML (M4 and M6)
    15% adult MDS
    40% of pediatric MDS
    50% of treatment related AML/MDS
    Can occur de novo or due to a secondary exposure to chemical mutagens
    Monosomy 7 carried a poor prognosis with relapse rate at 82% after one year and a 7-yr event free survival at only 6%
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): MM, NHL, CLL
    Probe Information
    Type: Deletion Probe
    Manufacturer: Cytocell
    D13S319: 13q14.2 (red)
    13qter: 13q34 (green)
    Clinical Significance
    Chromosomal abnormalities on chromosome 13q occur in 16-40% of Multiple myeloma cases
    The locus D13S319, located between the RB1 and D13S25 and within the DLEU1 locus, was found to be deleted in 45% of CLL cases
    Sole deletion of 13q14 is associated with a more favorable clinical outcome in CLL
    NHL and Multiple myeloma show a shorter survival rate with a deletion in chromosome 13
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): MDS, ANLL, Chronic neutrophilic leukemia
    Probe Information
    Type: Deletion Probe
    Manufacturer: Cytocell
    MYBL2: 20q12 (red)
    Control: 20q13.12 (green)
    Clinical Significance
    20q- may confer a proliferative advantage to myeloid cells through deletion of a tumor suppressor gene
    Interstitial or terminal deletion of the long arm of chromosome 20 is the second most frequent sole clonal structural abnormality behind t(9;22) in 5% of patients
    Del 20q found in 4.1% of MDS cases and 1.5% of AML cases
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium
    heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): AML, MDS, CML
    Probes
    Type: Breakapart Probe
    Manufacturer: Cytocell
    Telomeric to D3S4415: 3q26.2 (red)
    EVI1: 3q26.2 (green)
    Centromeric to EVI1: 3q26.1 (aqua)
    Clinical Significance
    EVI1 is a proto-oncogene that is responsible for encoding a protein that is a transcriptional regulator
    Carries a poor prognosis and are commonly accompanied by additional changes such as monosomy 7, del 7q, or del 5q
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): MPN, Eosinophilia
    Probe Information
    Type: Breakapart/ Amplification Probe
    Manufacturer: Cytocell
    FGFR1: 8p12 (red)
    FGFR1: 8p12 (green)
    D8Z2: 8p11.1-q11.1 (aqua)
    Clinical Significance
    MPD found to have 11 possible translocations between the FGFR1 gene and other counterparts
    Poor Prognosis of 12 months or less
    Sole anomaly in 50% of cases, and an additional derivative 8 occurs in 15% of patients
    Known to impact breast cancer, prostate cancer, bladder cancer, Rhabdomyosarcoma, Glioblastoma, skin melanoma, Thyroid carcinoma, salivary gland tumors, Esophageal squamous cell carcinoma, colorectal carcinoma, and lung cancer, just to name a few.
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): Lymphoma, NHL, MM, MGUS
    Probe Information
    Type: Breakapart Probe
    Manufacturer: Cytocell
    IGHC: 14q32.3 (red)
    IGHV: 14q32.3 (green)
    Clinical Significance
    Rearrangements seen in B-cell lymphoma, NHL, diffuse large cell lymphoma, multiple myeloma, B-Cell acute lymphoblastic leukemia, chronic myelogenous leukemia, Burkitt lymphoma, lymphoplasmatic lymphoma, mantel cell lymphoma, B-prolymphocytis leukemia, chronic lymphocytic leukemia, splenic lymphoma, follicular cell lymphoma and other B-cell lymphoproliferations.
    Depending on translocation partner and disease depicts prognosis Rearrangement with chromosome 4, 16, or 20 carry a poor prognosis Rearrangement with chromosome 11 carries a good prognosis Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): Follicular lymphoma, NHL
    Probe Information
    Type: Dual Fusion Probe
    Manufacturer: Cytocell
    BCL2: 18q21.33 (red)
    IGH: 14q32.33 (green)
    Clinical Significance
    t(14;18) is seen in 80-90% of Follicular lymphomas 20-30% seen in diffuse large cell lymphomas
    No prognostic significance in Follicular lymphoma
    Poor prognosis when seen in diffuse large cell lymphomas
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): MM, MGUS
    Probe Information
    Type: Dual Fusion Probe
    Manufacturer: Cytocell
    FGFR3: 4p16.3 (red)
    IGH: 14q32.33 (green)
    Clinical Significance
    Causes an overexpression of FGFR3 when translocated
    Second most frequent IGH rearrangement after IGH/cMYC 20% of primary MM
    Poor prognosis with a short duration of remission and a more potent relapse
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): Burkitt lymphoma
    Probe Information
    Type: Dual Fusion Probe
    Manufacturer: Cytocell
    cMYC: 8q24.21 (red)
    IGH: 14q32.33 (green)
    Clinical Significance
    Causes an up-regulation of cMYC
    The most common translocation t(8;14), accounts for 85% of patients diagnosed with Burkitt lymphoma
    5% of ALL adult patients and 2-3% in childhood cases of ALL are due to IGH/cMYC translocation
    Poor prognosis with amplification of the translocation IGH/cMYC
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): MM, MGUS
    Probe Information
    Type: Dual Fusion Probe
    Manufacturer: Cytocell
    MAF: 16q23.1-q23.2 (red)
    IGH: 14q32.33 (green)
    Clinical Significance
    IGH/MAF translocation causes a dysregulation of the MAF proto-oncogene or overexpression of MAF
    Found in 5-10% of patients with Multiple Myeloma
    However 50% of Multiple Myeloma patients have an unexplained overexpression of MAF
    Typically a poor prognosis
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): Marginal zone B-cell lymphoma, NHL
    Probe Information
    Type: Breakapart Probe
    Manufacturer: Cytocell
    MALT1: 18q21.31-q21.32 (red)
    MALT1: 18q21.31-q21.32 (green)
    Clinical Significance
    Two main translocations involving MALT1 found in B-cell lymphoma of the MALT (Mucosa-Associated Lymphoid Tissue) type
    t(11;14)(q21;q21)
    t(14;18)(q32;q21)
    t(11;14) seen in 20-50% of MALT lymphomas
    10-20% of MALT lymphomas harbor the t(14;18)
    Patients usually have prolonged survival, but some cases show a more aggressive disease
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): B/T-cell ALL, AML, ANLL, ALL, MDS
    Probe Information
    Type: Breakapart probe
    Manufacturer: Cytocell
    MLL: 11q23.3 (red)
    MLL: 11q23.3 (green)
    Clinical Significance
    11q23 rearrangements occur in 5-10% of treatment related leukemia Seen in 85% of infant B-ALL patients and a poor outcome in children when t(4;11) is observed
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): AML, ALL, CLL
    Probe Information
    Type: Deletion Probe
    Manufacturer: Cytocell
    MYB: 6q23.3 (red)
    D6Z1: 6p11.1-q11.1 (green)
    Clinical Significance
    80% of colorectal cancers also show an overexpression of MYB 29% of patients with a BCRA1 mutation show an amplification of MYB Deletion involving the long arm of chromosome 6 are most common among lymphoproliferative disorders and non-Hodgkin’s lymphoma 7% of B-CLL patients show a deleted region of the MYB gene Poor prognosis when associated with AML patients and colorectal cancer, but positive prognosis when overexpression seen in breast cancer patients
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): B/T-cell ALL
    Probe Information
    Type: Locus specific Probe
    Manufacturer: Cytocell
    p16(CDKN2A): 9p21 (red)
    D9Z3: 9q12 (green)
    Clinical Significance
    10% of childhood ALL
    Various aberrations reported include: monosomy 9, del(9p), add(9p), der(9p), dic(9p), i(9q) as well as balanced translocations involving 9p
    p16 is a tumor suppressor gene
    Mutations in this gene cause uncontrolled proliferation of mutated cells
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): MPN, Eosinophilia
    Probe Information
    Type: Breakapart Probe
    Manufacturer: Cytocell
    PDGFRB: 5q32 (red)
    PDGFRB: 5q32 (green)
    Clinical Significance
    Gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family
    Activation of this gene resulting from a t(5;12) (PDGFRB;ETV6) results in chronic myeloproliferataive disorder and can be treated with Gleevec.
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): Chronic eosinophilic leukemia, MPN
    Probe Information
    Type: Breakapart Probe
    Manufacturer: Cytocell
    PDGFRA: 4q12 (aqua)
    FIP1L1: 4q12 (green)
    CHIC2 4q12 (red)
    Clinical Significance
    Gene is involved in the activation of intracellular signaling pathways
    Deletion in this locus results in a fusion of FIP1L1 and PDGFRA and is found in 40-60% of chronic eosinophilic leukemia patients
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): AML - M3
    Probe Information
    Type: Dual Fusion Probe
    Manufacturer: Cytocell
    PML 15q24.1 (red)
    RARA 17q21.1-q21.2 (green)
    Clinical Significance
    Fusion gene is created by the t(15;17) found in 98% of AML M3 Acute promyelocytic leukemia and 9% of AML overall
    Treatment is urgent
    With differentiation therapy using all trans-retinoic acic (ATRA) along with chemotherapy complete remission is obtained in 80-90% of cases
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): T-cell leukemia
    Probe Information
    Type: Breakapart Probe
    Manufacturer: Cytocell
    TCL1 14q32.13 (red)
    TCL1 14q32.13 (green)
    Clinical Significance
    Inversions and translocations involving this loci have been reported in T-Cell malignancies
    Associated with chronic T-Cell leukemias that develop in patients with the immunodeficiency syndrome ataxia telangiectasia Most often rearranges with TCR by means of reciprocal translocations or inversions
    Associated with poor prognosis
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): ALL
    Probe Information
    Type: Breakapart Probe
    Manufacturer: Cytocell
    TCRAD: 14q11.2 (red)
    TCRAD: 14q11.2 (green)
    Clinical Significance
    Rearrangements are recurrent in both mature and immature T-cell neoplasms, many being cryptic cytogenetically
    Usually rearrangements arise from the positioning of a transcription factor gene translocating near the TRCA/D locus causing overexpression
    0.5-1.3% among all ALL cases
    Disease progression is rapid and response to conventional therapy is poor
    Median survival is 11 months
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1
  • Disease(s): B-cell ALL
    Probe Information
    Type: Dual Fusion Probe
    Manufacturer: Cytocell
    TEL 12p13.2 (red)
    AML1 21q22.12 (green)
    Clinical Significance
    Rearrangement is found in 15-35% of pediatric B-lineage ALL
    Complete remission is attainable, prognostically good rearrangement
    FISH greatly increases diagnosis from 0.05% conventional cytogenetics to 21% by FISH
    Specimen Requirements
    Bone Marrow Aspirate (Preferred): 2-5ml, Green-top sodium heparinized vacutainer
    Peripheral Blood: 5-10mL, Green-top sodium- heparinized vacutainer
    Storage and Transportation:
    Keep at room temperature
    Turn Around Time (TAT):
    24-48 hrs
    CPT Code: 88366 x 1