Cytogenetics Testing

Cytogenetics testing aids in the diagnosis of heritable genetic abnormalities and is also used to detect acquired or somatic abnormalities relevant for the diagnosis, prognosis, therapy, and monitoring of many types of cancer, including leukemia and lymphoma.

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Why Choose ARUP?

ARUP is committed to long-term investment in our cytogenetics testing to ensure we meet your patient care needs.


Comprehensive Cytogenetics Test Menu

Our comprehensive cytogenetics laboratory offers testing for both constitutional and oncology cases, including chromosome analysis, fluorescence in situ hybridization (FISH) analysis, and genomic microarray.


Expert Consultation

Our medical directors work closely with colleagues in hematopathology, molecular genetics, and other specialized testing areas to review and consult on concurrent testing across disciplines.


Wide Array of Sample Types

We offer testing of a wide array of sample types for both constitutional and oncology cases, including isolated plasma cells for genomic microarray (used, for example, in multiple myeloma testing).


Convenient Reflex Testing

Reflex testing supports the delivery of optimal patient care and offers efficient turnaround times while minimizing your costs by avoiding unnecessary testing. Our single-site operation enables us to perform all related testing in one location.


Customizable FISH Ordering

We offer a wide variety of FISH probes and panels so that you can tailor your test ordering to the clinical situation and can monitor your patients’ therapeutic responses to cancer treatment over time.


Efficient Turnaround Times

We use the latest technology and automation to increase efficiency, improve turnaround times, and decrease costs.

In the News

Answers Patients Can Trust: ARUP Expands Capacity for Cytogenetics Testing, Offering a Full Test Menu, Access to Related Tests, and Broad Testing Expertise

Read more.

Available Tests and FISH Probes


Introduction to Cytogenetics, Part I
by Erica Andersen, PhD, FACMG
Section Chief: Cytogenetics and Genomic Microarray


Testing is available for the following sample types:

Chromosome Analysis	FISH Analysis Genomic Microarray Analysis
                Peripheral blood Peripheral blood	Peripheral blood Amniotic fluid	Chorionic villus Chorionic villus
                Chorionic villus Amniotic fluid	Amniotic fluid Skin biopsy Buccal swab Products of conception Products of conception (fresh or FFPE tissue)
                FFPE, formalin-fixed, paraffin embedded

Prenatal and Constitutional Cytogenetics

Genetic Counselor Services

Our dedicated genetic counselors provide the following services for constitutional cases:

  • Test selection guidance
  • Case review and management on every prenatal case
  • Interpretation assistance for complex findings
  • Variant reevaluation services
  • Local resource identification

Support of Optimal Patient Care

Our full-service Cytogenetics department provides outstanding stewardship:

  • Expedited chromosome analysis for newborns 7 days or younger, with a preliminary report available within 2–3 days to provide early actionable insights
  • Customized interpretive information and follow-up test recommendations that align with current American College of Medical Genetics and Genomics (ACMG)/ClinGen technical standards
  • Interpretation of structural variants
  • Postnatal microarray testing that includes chromosome studies, when indicated

Testing is available for the following sample types:

Chromosome Analysis	FISH Analysis Genomic Microarray Analysis Bone marrow Bone marrow Bone marrow
              Leukemic blood	Isolated plasma cells Isolated plasma cells Lymph node Leukemic blood	Leukemic blood
              Solid tumor	FFPE tissue	Solid tumors (FFPE tissue)

Oncology Cytogenetics

chat-communicateProven Quality
We are certified by the Children’s Oncology Group (COG), which demonstrates our high caliber of excellence and quality in oncology cases.

Hematologic Malignancies and Solid Tumor Cases

Maximum Clinical Impact

  • Expedited PML::RARA FISH testing for rapid confirmation of acute promyelocytic leukemia (APL)
  • Internal review of all FISH orders to eliminate redundant testing
  • High diagnostic yield and efficient turnaround time
  • Optimized chromosome analysis includes:
    • Specialized cultures for acute and mature lymphoid cell malignancies (including CpG-stimulation for chronic lymphocytic leukemia [CLL])
    • Routine medical director review of more karyograms per case than required by the College of American Pathologists (CAP)
  • Comprehensive, up-to-date reporting practices, including classification according to the World Health Organization (WHO), International Consensus Classification (ICC), National Comprehensive Cancer Network (NCCN), and ACMG/the Cancer Genomics Consortium (CGC).