Featured Tests

Discover our extensive test menu and broad range of tests for diagnosis and clinical management.

 
Myeloid Malignancies

Why Choose ARUP?

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Clinical Relevance

Adherence to National Comprehensive Cancer Network (NCCN) guidelines for mutation profiling in myeloid malignancies ensures accurate, industry-standard results.

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Cost-Effective, Comprehensive Panels

Our comprehensive panels provide cost-effective detection of diagnostic, prognostic, and therapeutic biomarkers.

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Latest Technology

Next generation sequencing enables detection of targeted gene mutations and genome-wide copy number variants (CNVs) in a single assay.

Identification of one or more clonal genetic abnormalities, variants, or patterns of variants may aid in the diagnosis, classification, prognosis, and clinical management of myeloid malignancies.

2011117   Myeloid Malignancies Mutation Panel by Next Generation Sequencing

ARUP’s myeloid malignancies mutation panel covers the spectrum of clinically relevant sequence variants. This test detects diagnostic, prognostic, and therapeutic biomarkers in myeloid malignancies such as acute myeloid leukemia (AML), myelodysplastic syndromes (MDSs), myeloproliferative neoplasms (MPNs), and MDS/MPN overlap disorders such as chronic myelomonocytic leukemia (CMML).

NEW Test

3016621   Myeloid Malignancies Mutation and Copy Number Variation Panel by Next Generation Sequencing

ARUP’s myeloid malignancies mutation and copy number variation assay uses next generation sequencing to detect sequence variants, copy number changes (gains or losses), and copy number-neutral loss of heterozygosity (CN-LOH). In addition to targeting specific genes, this assay detects and reports relevant CNVs down to 5 Mb from across the genome. This test covers all the latest variants relevant for diagnosis and classification, as well as emerging biomarkers that may inform clinical management.

ARUP Test Code and Name Genes or Alleles Assesseda

2011117 Myeloid Malignancies Mutation Panel by Next Generation Sequencing

ANKRD26; ASXL1; ASXL2; BCOR; BCORL1; BRAF; CALR; CBL; CBLB; CEBPA; CSF3R; CUX1*; DDX41; DNMT1*; DNMT3A; ELANE; ETNK1; ETV6; EZH2; FBXW7; FLT3; GATA1; GATA2; GNAS; HNRNPK; IDH1; IDH2; IL7R; JAK1; JAK2; JAK3; KDM6A*; KIT; KMT2A; KRAS; LUC7L2; MPL; NOTCH1; NPM1*; NRAS; NSD1; PHF6; PIGA; PPM1D; PRPF40B; PRPF8; PTPN11; RAD21; RUNX1; SAMD9; SAMD9L; SETBP1; SF3B1; SH2B3; SMC1A; SMC3; SRSF2; STAG2; STAT3; STAT5B*; SUZ12*; TET2; TP53; U2AF1; U2AF2; UBA1; WT1; ZRSR2

3016621 Myeloid Malignancies Mutation and Copy Number Variation Panel by Next Generation Sequencing

Includes the genes listed above, plus:

  • CNVs (gains or losses) in the targeted genes
  • Likely acquired terminal CN-LOH
  • CNVs ≥5 Mb across the genome

Coverage of note:

  • Losses in TBL1XR1CD200IKZF1CDKN2AASMTL, ERG, ARID2, and ATM
  • Gains in MYC
  • Losses between FIP1LI and PDGFRA that result in a potential fusion
  • Any CN-LOH involving TP53JAK2, and CBL

aOne or more exons are not covered by sequencing for the indicated gene.

Hemostasis Thrombosis

Why Choose ARUP?

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Cost-Effective Testing

ARUP’s reflexive testing approach reduces unnecessary testing and minimizes your laboratory costs. Additional testing is performed only when indicated by abnormal results.

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Consult With Leading Pathologists

Board-certified medical directors are available to answer questions regarding test results, discuss possible test interferences, and consult on difficult-to-diagnose cases.

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Entire Diagnostic Workup

Access related genetic testing for bleeding and thrombotic disorders through ARUP’s broad test menu.

3006383   Prolonged Clot Time Reflexive Profile

Evaluate prolonged clotting times to inform treatment of bleeding disorders, conduct presurgical evaluations, and guide blood product replacement.
A customized interpretation by an ARUP medical director indicates the clinical significance of any abnormalities identified and provides recommendations for follow-up testing.

0030181   Lupus Anticoagulant Reflexive Panel

Detect the presence of lupus anticoagulant to evaluate the cause of vascular thrombosis and unexplained pregnancy loss and to test for antiphospholipid syndrome.

Hemoglobinopathies

Why Choose ARUP?

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Expert Consultation

Consult with our medical directors on test selection and results interpretation.

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Clinical Relevance

Adherence to guidelines ensures accurate, industry-standard results.

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Entire Diagnostic Workup

 

Access related genetic testing and more through ARUP’s broad test menu.

 

Hemoglobinopathies are inherited disorders marked by abnormal production or structure of the hemoglobin molecule. Some hemoglobinopathies require lifelong blood transfusions combined with effective iron removal to prevent organ damage.

ARUP’s testing aids in the diagnosis of hemoglobinopathies and can guide further testing, including molecular testing, to inform treatment and genetic counseling.

2005792   Hemoglobin Evaluation Reflexive Cascade

This is the optimal, one-stop test for the initial and confirmatory diagnosis of any suspected hemoglobinopathy, including thalassemias, sickle cell disease, and unstable hemoglobinopathies.

Testing reflexes until a diagnosis is made, eliminating the need for additional test ordering.

ARUP pathologists, who are also faculty members at the University of Utah, personally direct and interpret each stage of testing to ensure the best result.

0050610   Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility

This test is effective for screening and follow-up in individuals with known hemoglobinopathies. This test is appropriate if genetic testing has already been performed, as it does not reflex to genetic testing.

Explore these and other options in our clinically-relevant test menu.

Additional Resources

Access decision support resources through ARUP Consult®.

Access continuing education courses through ARUP’s Institute for Learning.