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

Casandra

Casandra Test Code AR88797Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3016621CPT Code 81455

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

Also known as: MYE CNV

Clinical Use

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Use

This test is used to assess somatic sequence variants, copy number variants (CNVs), and copy number-neutral loss of heterozygosity (CN-LOH) with prognostic and/or therapeutic significance in conditions such as acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN), and MDS/MPN overlap disorders such as chronic myelomonocytic leukemia (CMML). It aids in the subclassification of myeloid neoplasms and is recommended for initial diagnostic workup and therapeutic monitoring, in accordance with the most updated guidelines. For detecting sequence variants without CNVs and CN-LOH in specific clinical scenarios, a different panel is recommended.

Special Instructions

Specimen source is required for testing, and separate specimens must be submitted when multiple tests are ordered. Sample stability is crucial with whole blood or bone marrow samples remaining stable for up to 72 hours at ambient temperature and 1 week when refrigerated, but they are unacceptable if frozen.

Limitations

Variants outside targeted regions or below detection limits are not identified. Some exons are not covered for certain genes, and technical limitations may exist due to pseudogenes or repetitive/homologous regions. Insertions/deletions may not be detected at LOD. RNA variants, gene fusions, translocations, and large structural variants are not detected. Due to analytical complexities, CNVs may not be reported in cases like stem cell transplants with mixed chimerism, increased genomic complexity, or complex aneuploidies. Also, germline variants and certain CNLOH types are not reported.

Test Details

Methodology

NGS (Targeted)

Biomarkers

Mutation (68 genes)

ANKRD26ASXL1ASXL2BCORBCORL1BRAFCALRCBLCBLBCEBPACSF3RCUX1DDX41DNMT1DNMT3AELANEETNK1ETV6EZH2FBXW7FLT3GATA1GATA2GNASHNRNPKIDH1IDH2IL7RJAK1JAK2JAK3KDM6AKITKMT2AKRASLUC7L2MPLNOTCH1NPM1NRASNSD1PHF6PIGAPPM1DPRPF40BPRPF8PTPN11RAD21RUNX1SAMD9SAMD9LSETBP1SF3B1SH2B3SMC1ASMC3SRSF2STAG2STAT3STAT5BSUZ12TET2TP53U2AF1U2AF2UBA1WT1ZRSR2