Fanconi anemia is a rare inherited genetic instability syndrome that may present with physical abnormalities and progressive bone marrow failure, and has a predisposition to MDS and AML, as well as the development of solid tumors later in life. This FISH panel is designed to detect the most common, and/or prognostically-significant abnormalities in Fanconi anemia-related myeloid disorders (Mehta et al. 2010), and also includes FISH probes useful for detecting MDS (see MDS information sheet for more information).  FISH studies are useful adjuncts to complete chromosome studies, particularly when following an abnormal clone, assessing relapse and progression, or when material is inadequate for chromosomal analysis.

The Fanconi Anemia FISH panel includes: 

1. 1p36/1q25 probes, to detect gain of 1q.
2. D7S486/CEP 7 probe set, to detect monosomy 7 or 7q deletion.
3. BCL6/CEP 3 probe set, to detect gain of 3q and/or trisomy 3.
4. EGR1/5q33/5p15 probe set, to detect monosomy 5 and 5q deletion.
5. CEP 8, to detect trisomy 8.
6. D20S108/20qtel probe set, to detect monosomy 20 and 20q deletion.
7. MLL, to detect rearrangements of MLL (11q23)
8. GATA2/MECOM dual-fusion probe, to detect t(3;3) and variants.
9. P53 / NF1 probe set, to detect loss of 17p and/or monosomy 17.

Note: Interphase FISH analysis is not intended to stand alone, but rather to provide supplemental information to routine cytogenetic studies.


Slides are prepared per standard protocols and 100-200 interphase cells are scored per probe.

*Please note: it is our laboratory policy to analyze at least one metaphase cell from every hybridization, if possible, including both normal and abnormal cells, if both exist.

Specimen Requirements:

  • Bone Marrow: Shortly before aspiration add 0.2 cc of Sodium Heparin (1,000 units/ml) to tube of transport medium (please contact lab to arrange for transport medium to be sent).Add at least 1 cc of bone marrow aspirate to the tube and suspend well.Allow no clots to form.
  • Peripheral blood:  May be used if bone marrow is inaspirable and blasts (.5%) are present.Send in Sodium Heparin tube.
  • Bone core biopsy:  May also provide cells in cases where marrow is severely packed.Send in transport medium with Sodium Heparin.
  • Bone marrow smears: Provide 10 slides
    • Contact Client Services at (855) 535-1522 for more information.
  • FFPE Slides:
    • If sending slides, please include H&E stained slide cut from same block
    • Preferred slice thickness is 4-5 microns on positively charged slides. 
    • Please submit 10-20 slides.  Store at room temperature.
    • Contact Client Services at (855) 535-1522 for shipping supplies and instructions
A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information,  including ethnicity, clinical history, and family history.

Test Performed (Days):

Mon – Sat

Turn Around Time:

5-10 days Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.

Shipment Sensitivity Requirements:

  • Keep specimen at room temperature during transit. 
  • Do not use the cold pack provided in the KDL shipping kit.
  • Ship the specimen overnight express, using the FedEx priority overnight label provided.
  • The specimen must arrive at the lab no more than 24 hours after collection.


Mehta et al. 2010 Cancer Genet Cytogenet 203, 180-186.

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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