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.
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/ABL1 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 DLEU1/LAMP1 13q14 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) DLEU1/LAMP1 13q14 deletion/ monosomy 13 TP53 17p13.1 deletion *5p15 / 9q22 / 15q22 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) DLEU1/LAMP1 13q14 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)
*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.
• 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
For FISH analyses available on paraffin embedded tissue, see our FFPE page.
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) 5p15 / 9q22 / 15q22 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 PCM1/JAK2 t(8;9)(p22;p24) 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 DLEU1/LAMP1 13q14 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 19q13/19p13 19q13.3 deletion 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 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 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 PML/RARA Rapid FISH Same day (if received before 11AM) 88377 Neoplastic FISH Only Cases – Additional Codes Added – 88237
*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.
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