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

Also known as: MYE CNV

Clinical Use

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

Not provided.

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