EndLeukemia Assay (NGS)
Indication
The EndLeukemia mutation screening assay is a next-generation sequencing (NGS) based test designed to screen for somatic mutations in exonic regions of 81 genes with therapeutic and/or prognostic importance in hematological malignancies. Detailed profiling of the mutations existing in the tumor is warranted to understand the genetic basis of cancer and improve overall patient diagnosis and treatment.
Methodology
Genomic DNA from peripheral blood or bone marrow is fragmented using restriction enzymes, followed by oligonucleotide probe hybridization, creating circularized DNA molecules containing the target regions. The DNA molecules are ligated, captured, and amplified by PCR, with sequencing performed on Illumina¡¯s NextSeq instrument.
Test Parameters
Clinical specimens were reviewed for the markers listed in the following table.
ANKRD26 |
CBLC |
ELANE |
GFI1 |
JAK1 |
NF1 |
PTEN |
SH2B3 |
SUZ12 |
ASXL1 |
CEBPA |
ETNK1 |
GNAS |
JAK2 |
NOTCH1 |
PTPN11 |
SMC1A |
TERC |
ASXL2 |
CREBBP |
ETV6 |
HNRNPK |
JAK3 |
NPM1 |
RAD21 |
SMC3 |
TERT |
BCOR |
CRLF2 |
EZH2 |
HRAS |
KDM6A |
NRAS |
RARA |
SRSF2 |
TET2 |
BCORL1 |
CSF3R |
FAM5C |
IDH1 |
KIT |
PAX5 |
RUNX1 |
STAG1 |
TP53 |
BRAF |
CUX1 |
FBXW7 |
IDH2 |
KRAS |
PHF6 |
SETBP1 |
STAG2 |
U2AF1 |
CALR |
DDX41 |
FLT3 |
IKZF1 |
MAP2K1 |
PIGA |
SF1 |
STAT3 |
U2AF2 |
CBL |
DNMT3A |
GATA1 |
IL2RG |
MLL |
PML |
SF3A1 |
STAT5A |
WT1 |
CBLB |
EED |
GATA2 |
IL7R |
MPL |
PRPF40B |
SF3B1 |
STAT5B |
ZRSR2 |
Turnaround Time
7 days for Routine and STAT
Sample Requirements
10 ml peripheral blood (PB) in purple-top (lavender top) tube (EDTA Vacutainer), sent on wet ice
or
2¨C5 ml of bone marrow aspirate (BM), sent on wet ice
CPT Codes
81455
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.