ALTseqTM is a rapid whole genome sequencing test for the simultaneous detection of tumor gene alterations (single nucleotide variants, indels, copy number alterations, and structural variants) for patients diagnosed with AML.
ALTseqTM reports on AML-specific genes and alterations to include: Single nucleotide variants, small insertion/deletions, and copy number alterations: ASXL1, BCOR, BCORL1, BRAF, CALR, CBL, CEBPA, CSF3R, CUX1, DNMT3A, ETV6, EZH2, FLT3, GATA2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NF1, NPM1, NRAS, PHF6, PIGA, PPM1D, PTPN11, RAD21, RUNX1, SF3B1, SMC1A, SMC3, SRSF2, STAG2, SUZ12, TET2, TP53, U2AF1, WT1, and ZRSR2.
Tandem duplications: FLT3 internal tandem duplications (ITD) and KMT2A partial tandem duplications (PTD).
Large-scale copy number alterations: Deletions on chromosomes 5, 7, 17, and 20.
Structural variants: BCR::ABL1, CBFB::MYH11, DEK::NUP214, KAT6A::CREBBP, KMT2A rearrangements, MECOM rearrangements, NUP98 rearrangements, PML::RARA, RBM15::MRTFA, RUNX1::RUNX1T1, and RUNX1::PRDM16.
A patient-specific interpretive report is provided, with variants reported in a hierarchical manner. Biomarker and gene summaries are provided for variants with prognostic or therapeutic associations as well as for variants of biological relevance. Variants of Unknown Significance (VUS) are also reported.
Turnaround Time: 2 business days
Sample and Shipping Requirements
Note: TCL cannot accept samples from New York State
Specimen Requirements: 2-5mL peripheral blood in EDTA or bone marrow aspirate in sodium heparin with >20% blast content
Shipping Guidelines
Ship same day as collection. Sample may be stored at 4C for no more than 4 days prior to shipping
Questions?
phone: 602-343-8783