Hematologic Cancer Panel_MM

• Test Code: ON104

Test Description

This test is for diagnosing multiple myeloma (MM), evaluating the prognosis, and determining the treatment policy.DNA is extracted from bone marrow or blood to analyze 24 gene mutation information. SNV and small indel mutations can be detected, and the sensitivity of the mutation is about 5%.

Ordering information

• Turnaround time: 14 Days
• Specimen: EDTA WB 3ml or EDTA BM 3ml

Assay information

• Target Region: 24 genes
• Tested Panel: Multiple Myeloma(MM) Panel
• Target Enrichment Method: Hybridization with oligonucleotide probes (MM v1.0)
• Massively Parallel Sequencing: MiSeqDX (150bp * 2 paired-ends)
• Bioinformatic Pipeline: BI_MM 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

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