Cytogenetics Test List

Cytogenetics Hematopathology

G-banded Chromosome Analysis

Conventional cytogenetic studies to detect chromosomal gains, losses and rearrangements such as inversions and translocations for a variety of neoplasms including hematological malignancies and solid tumors.

*City of Hope Cytogenetics Laboratory is a Children’s Oncology Group (COG)-approved lab for conventional cytogenetic and FISH analyses.

Fluorescence In Situ Hybridization (FISH) Panels

Molecular cytogenetic FISH assays to detect or confirm previous or applicable abnormalities for a variety of neoplasms. Available FISH probes and panels are listed below.

  • Chronic Lymphocytic Leukemia (CLL): del(11q) ATM, Trisomy 12 DDIT3, -13/del(13q) D13S319/LAMP1, del(17p) TP53; t(11;14) IGH::CCND1
  • Targeted Plasma Cell FISH: 1q/1p (CKS1B/CDKN2C), +5/+9/+15 (for hyperdiploidy), MYC, -13/del(13q) D13S319/LAMP1, del(17p) TP53, IGH break-apart [with reflex to t(4;14),t(11;14) and t(14;16)]

Individual FISH Probes

  • 1q/1p (CKS1B/CDKN2C) gain/loss
  • ABL2 (1q25.2) rearrangement
  • inv(3)/t(3;3) MECOM
  • 3q/BCL6 rearrangement
  • +4/+10 (CEP 4/10)
  • 4q12 rearrangement
  • CHIC2 deletion/FIP1L1::PDGFRA fusion
  • t(4;14) IGH::FGFR3 fusion
  • -5/5q- (EGR1)
  • +5/+9/+15
  • PDGFRB (5q32) rearrangement
  • del(6q21) FOXO3
  • t(6;9) DEK::NUP214 fusion
  • -7/7q- (CEP 7/D7S486)
  • +8 (CEP 8/MYC)
  • 8q24.21/MYC rearrangement
  • +8, del(20q) (CEP 8/D20S108)
  • t(8;21) RUNX1::RUNX1T1 fusion
  • t(8;14) IGH::MYC fusion
  • ABL1 (9q34.1) rearrangement
  • t(9;22) BCR::ABL1/ASS1

 

  • del(9p) CDKN2A/CDKN2B
  • t(11;14) IGH::CCND1 fusion
  • del(11q22.3) ATM/CEP 11
  • 11q23/KMT2A rearrangement
  • 12p/ETV6 rearrangement
  • t(12;21) ETV6::RUNX1 fusion
  • Trisomy 12 (DDIT3)
  • -13/del(13q) (D13S319/LAMP1)
  • 14q32.33/IGH rearrangement
  • t(14;16) IGH::MAF fusion
  • t(14;18) IGH::BCL2 fusion
  • t(15;17) PML::RARA fusion
  • inv(16)/t(16;16) CBFB
  • del(17p) TP53/CEP 17
  • 17q/RARA rearrangement, e.g., t(15;17)
  • 19p/TCF3 rearrangement, e.g., t(1;19)
  • CRLF2 (Xp22.33/Yp11.32)
  • P2RY8 (Xp22.33/Yp11.32)
  • Chromosomes X and Y (for monitoring sex-mismatched transplantation status)

  • ERBB2(HER2) amplification (breast, esophageal and other cancers)

     

* Currently available to City of Hope patients only. Please contact lab outreach for non-City of Hope availability status.

*Most commonly known designations are used here to indicate each abnormality identified by the FISH probes.

Whole-Genome Oncology Microarray (SNP-Array) for Hematological Malignancies (CytoScan HD)*

The CytoScan HD microarray provides high resolution whole-genome interrogation of newly diagnosed or relapse neoplastic specimens, including genome-wide copy number and copy-neutral loss of heterozygosity (CN-LOH) analyses.

Cytogenetics Hematopathology Specimen Requirements

Specimen Requirements

  • Peripheral Blood: Sodium Heparin (green top); 10 ml minimum
  • Bone Marrow:  Sodium Heparin (green top); 3 ml minimum
  • Bone Core:  Sodium Heparin (green top); 1 – 2 cores
  • Stem Cells:  Sodium Heparin (green top); 1 ml minimum
  • Fresh Tissue:  RPMI 1640 (supplemented with penicillin/streptomycin) in sterile container; 0.5-1 cm3 of viable tumor
  • FFPE:  (Formalin Fixed Paraffin Embedded) Block with the highest tumor content, which is not exposed to any decalcifying solutions OR 1 H&E and 1 USS (unstained slides 4-micron-thick)
  • Cytogenomic Microarray:  EDTA; 4 ml minimum peripheral blood or bone marrow

Shipping/Handling

  • Blood, Bone Marrow Aspirate, Bone Core, Stem Cells and Fresh Tissue:  ship at ambient temperature if delivered on the same day; ship refrigerated otherwise.  Do not freeze.
    FFPE:  ship at ambient temperature.

Cytogenetics FAQs

Yes, a properly completed Test Request Form (TRF) is required for all tests.

Cytogenetics Logistics and Forms

Test Request Form

A completed Test Request Form (TRF) is required for all tests. Samples that arrive without a fully completed TRF will be delayed. 

Printed copies of all required forms must always be included with the specimen. Do NOT transmit forms via regular email, which is not secure.

Shipping Information

Please include a completed Test Request Form (TRF) with every sample. If the Test Request Form (TRF) is not complete, testing WILL be delayed.

Hours are Monday to Friday, 8:00 am to 5:00 pm PST (Pacific Standard Time).

Please schedule specimen collection to ensure delivery during these hours. If it is necessary to schedule delivery during holidays and weekends, the samples will be held until next business day.

Ship specimens to:

ATTN: Cytogenetics
City of Hope
1500 East Duarte Road
Northwest Bldg., Room 2231
Duarte, CA 91010