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 detected.
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.
Chromosome Analysis Detects:
• Aneuploidy (monosomy, trisomy)
• Deletions and duplications (>5Mb)
Chromosome Analysis Does Not Detect:
• Deletions or duplications that are too small to be seen by microscope (<5Mb)
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.
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 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) *IGH/MAFB t(14;20)(q32;q12) 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) IGH/MAFB t(14;20)(q32;q12) 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 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
*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.
Submitting a Sample
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.