- Test Code: ON065
Test Description
This test is for diagnosing myelodysplastic syndromes (MDS), evaluation of prognosis, and decision-making of treatment policy. DNA is extracted from bone marrow or blood and mutation information of 49 genes is analyzed.
SNV, small indel mutations can be detected, and the detection sensitivity of the mutations is about 5%, and FLT-ITD mutations with low allele burden can be detected sensitively.
Ordering information
- Turnaround time: 14 Days
- Specimen: EDTA WB 3ml or EDTA BM 3ml
Assay information
- Target Region: 49 genes
- Tested Panel: Myelodysplastic syndromes (MDS) Panel
- Target Enrichment Method: Hybridization with oligonucleotide probes (HEMA v2301.1)
- Massively Parallel Sequencing: Nextseq550DX (150bp * 2 paired-ends)
- Bioinformatic Pipeline: BI_HEM.v.1.0 (Alignment: BWA, Variant calling: VarScan2_GATK)
- Reference Genome: GRCh37/hg19
References
- COSMIC (http://cancer.sanger.ac.uk)
- c-bioportal (http://www.cbioportal.org)
- Cancer Hotspots (http://cancerhotspots.org)
- OncoKB (http://oncokb.org)
- My Cancer Genome (https://www.mycancergenome.org/)
- The Clinical Knowledgebase (https://ckb.jax.org/)
- WHO classification of tumors of hematopoietic and lymphoid tissues(revised 4th edition)
- NCCN guidelines®
Result
The test results will be provided according to the designated TAT. Review the sample report to see how the results are structured.
Limitations
- This test was performed using sequencing analysis. It can detect SNP and small-indel variants within the analyzed region, but not structural variations such as copy number variation (CNV) and gene rearrangement.
- The limit of detection for SNV and small-indel variants is approximately 5%.
- The detected variants in this test are not re-confirmed by Sanger sequencing, ddPCR or other confirmation methods.
- This test does not distinguish between germline and somatic variants. If the variant allele frequency of the mutation is close to 50% or 100%, the possibility of a germline variant cannot be excluded.
- The variants detected in this test are classified into four (tier 1~4) according to the 2017 JMD guideline (J Mol Diagn 2017;19:313-327), and tier 4 variants are not reported.
Verifying more specific details about the Test
