Laboratory Service Report
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1 Client C DLP Rochester Rochester, N Specimen Type Peripheral blood CR PDF Report available at: Indication for Test DS CR Pathogenic utations Detected CR None. See below for Variants of Unknown Significance and Additional Notes. Please see the section of "Panel Gene List" below for the complete list of genes tested. Interpretation CR No pathogenic genetic alteration is detected in the listed gene regions. This finding does not exclude the presence of genetic alteration occurring at allele frequency below our established detection limit of 5-10%, or other genetic alterations present in untested gene regions. Clinical Trials CR Information regarding possible clinical trials for this patient can be found at the following sites: 1). ClinicalTrials.gov: 2). ayo Clinic: 3). National Cancer Institute: 4). olecular atch: Variants of Unknown Significance None CR Additional Notes None CR ethod Summary CR DNA is extracted from the peripheral blood or bone marrow sample and following library preparation by hybrid capture, subjected to next generation sequencing (NGS) with post-sequencing analysis of tumor-associated mutations. Because some regions in the target panel are not consistently resolved by NGS, additional separate clinical laboratory assays may also be used to complete the overall analysis including: CALR (CALR), CEBPA (CEBPA), CSF3R (CSF3R), FLT3 (FLT), JAK2 V617F utation Detection (JAK2B, JAK2, or JAK2V), JAK2 Exon 12 utation Detection (JAKXB or JAKX), KIT (KITB, KITB, KITAS, or KITE), PL (PLB or PL), YD88 (YD88), NP1 (NP1), and TP53 (P53CA). Performance characteristics of NGS panel: ***Performing Site Legend on Last Page of Report*** Page 1 of 4 >> Continued on Next Page >> * Report times for ayo performed tests are CST/CDT
2 Client C DLP Rochester Rochester, N Single base substitutions: accuracy >99%; reproducibility 100% (intra- and interassay); sensitivity 5-10% variant allele fraction with a minimum depth coverage of 250X. Insertion/deletion events: accuracy >99%; reproducibility 100% (intra- and interassay); sensitivity 5-10% variant allele fraction with a minimum depth coverage of 250X. This test was developed and its performance characteristics determined by ayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration. Disclaimer CR CLINICAL DISCLAIER utation calls detected between 5-10% variant allele fractions (VAF) may indicate low-level (i.e. subclonal) tumor populations, although the clinical significance of these findings may not be clear. Some apparent mutations classified as VUS may represent rare or low frequency polymorphisms. A low incidence of gene mutations associated with myeloid neoplasms can also be detected in hematopoietic cells with advancing age in some individuals without evidence of a hematologic malignancy ("clonal hematopoiesis") and these alterations may not be clearly distinguishable from tumor-associated mutations (PID ; ; ). Prior treatment for hematologic malignancy could affect the results obtained in this assay. In particular, prior allogeneic hematopoietic stem cell transplant (HSCT) may cause difficulties in resolving somatic or polymorphic alterations, or in assigning variant calls correctly to donor and recipient fractions, if pertinent clinical or laboratory information (e.g. chimerism engraftment status) is not provided. Correlation with clinical, histopathologic and additional laboratory findings is required for final interpretation of these results. This assay does not distinguish between somatic and germ line alterations in analyzed gene regions, particularly with VAF near 50% or 100%. If nucleotide alterations in genes associated with germ line mutation syndromes are present and there is also a strong clinical suspicion or family history of malignant disease predisposition, additional genetic testing and appropriate counseling may be indicated. This report interpretation is based on current medical and scientific literature, but clinical significance may not be completely established for all reported target gene abnormalities identified. The final interpretation of results for clinical management of the patient is the responsibility of the managing ***Performing Site Legend on Last Page of Report*** Page 2 of 4 >> Continued on Next Page >> * Report times for ayo performed tests are CST/CDT
3 Client C DLP Rochester Rochester, N physician. TECHNICAL DISCLAIER The depth of sequencing coverage may be variable for some target regions, but assay performance below the minimum acceptable criteria, or for failed regions are noted. Analysis of rare (low allele frequency) polymorphisms may be problematic in some cases. A low tumor cell percentage in the sample may affect the true mutation VAF and/or sensitivity. Suboptimal- performing regions (i.e. less than the expected minimum depth of coverage) may affect analytic sensitivity for detecting lower level mutations. This is a qualitative test. The variant read fractions are provided for information only and represent a relative proportion of mutated alleles, but do not indicate a measure of analytical sensitivity for the given genes; assay sensitivity is as stated in the method summary. Some genetic or genomic alterations, such as large insertion/deletion (indel) events, copy number alterations (CNA) and gene translocation events are not detected by this assay. OncoHeme Panel Gene list CR ASXL1 (N_ ) exons 11-14, BCOR (N_ ) exons 5-, BRAF (N_ ) exon 15, CALR (N_ ) exon 9, CBL (N_ ) exon 8, intron 8, and exon 9, CEBPA (N_ ) exon 1, CSF3R (N_ ) exons 14 and 17, DNT3A (N_ ) exons 8-23, ETV6 (N_ ) exons 3-8, EZH2 (N_ ) exons 3-21, FLT3 (N_ ) exons 14-20, GATA1 (N_ ) exons 2 and 4, GATA2 (N_ ) exons 4-8, IDH1 (N_ ) exon 4, IDH2 (N_0028.3) exon 4, JAK2 (N_ ) exons 12-, KIT (N_ ) exons 8-11 and 17, KRAS (N_ ) exons 2-3, PL (N_ ) exons 10-11, YD88 (N_ ) exon 5, NOTCH1 (N_ ) exons 26, 27, and 34, NP1 (N_ ) exons 9, 11, and 12, NRAS (N_ ) exons 2 and 3, PHF6 (N_ ) exons 2-10, PTPN11 (N_ ) exons 3-4 and 12-13, RUNX1 (N_ ) exons 4-10, SETBP1 (N_ ) partial exon 6; amino acids , SF3B1 (N_ ) exons 13-, SRSF2 (N_0030.4) exons 1 and 2, TERT (N_ ) exons 2-, TET2 (N_ ) exons 3-11, TP53 (N_ ) exons 4-9, U2AF1 (N_ ) exons 2, 7, and 9, WT1 (N_ Aas.3) exons 1-11, and ZRSR2 (N_ ) exons For some genes, the transcript IDs used in this analysis ***Performing Site Legend on Last Page of Report*** Page 3 of 4 >> Continued on Next Page >> * Report times for ayo performed tests are CST/CDT
4 Client C DLP Rochester Rochester, N may not be the same as in other cancer mutation databases, such as COSIC ( Reviewed By: CR Signing Pathologist: elissa Tricker-Klar RECEIVED: 10/20/20 14:52 REPORTED: 10/20/20 15:01 * Performing Site: ayo Clinic Laboratories - Rochester ain Campus CR 200 First St SW Rochester, N Lab Director: William G. orice, II,.D., Ph.D. Page 4 of 4 ** End of Report ** * Report times for ayo performed tests are CST/CDT
5 PATIENT NAE TESTINGRNV, REPORT PATIENT ID COLLECTED 10/20/20, 6:00 A DLP Rochester Rochester DATE OF BIRTH RECEIVED 10/20/20, 2:52 P N AGE Y SEX ale REPORTED 10/20/20, 3:01 P The collected, received and reported dates and times are in the time zone of the performing location. REQUESTED BY CLIENT CLIENT CLIENT ORDER NUBER CLIENT RN NGSH ORDER NUBER F Specimen Type Indication for Test Peripheral blood DS PATHOGENIC UTATIONS DETECTED None. See below for Variants of Unknown Significance and Additional Notes. Please see the section of "Panel Gene List" below for the complete list of genes tested. INTERPRETATION No pathogenic genetic alteration is detected in the listed gene regions. This finding does not exclude the presence of genetic alteration occurring at allele frequency below our established detection limit of 5-10%, or other genetic alterations present in untested gene regions. CLINICAL TRIALS Information regarding possible clinical trials for this patient can be found at the following sites: 1). ClinicalTrials.gov: 2). ayo Clinic: 3). National Cancer Institute: 4). olecular atch: VARIANTS OF UNKNOWN SIGNIFICANCE (VUS) None ADDITIONAL NOTES None ETHOD SUARY DNA is extracted from the peripheral blood or bone marrow sample and following library preparation by hybrid capture, subjected to next generation sequencing (NGS) with post-sequencing analysis of tumor-associated mutations. Because some regions in the target panel are not consistently resolved by NGS, additional separate clinical laboratory assays may also be used to complete the overall analysis including: CALR (CALR), CEBPA (CEBPA), CSF3R (CSF3R), FLT3 (FLT), JAK2 V617F utation Detection (JAK2B, JAK2, or JAK2V), JAK2 Exon 12 utation Detection (JAKXB or JAKX), KIT (KITB, KITB, KITAS, or KITE), PL (PLB or PL), YD88 (YD88), NP1 (NP1), and TP53 (P53CA). PATIENT NAE TESTINGRNV, REPORT -TL258 Form ID: ETCB Page 1 of 3
6 PATIENT NAE TESTINGRNV, REPORT PATIENT ID COLLECTED 10/20/20, 6:00 A DLP Rochester Rochester DATE OF BIRTH RECEIVED 10/20/20, 2:52 P N AGE Y SEX ale REPORTED 10/20/20, 3:01 P The collected, received and reported dates and times are in the time zone of the performing location. REQUESTED BY CLIENT CLIENT CLIENT ORDER NUBER CLIENT RN NGSH ORDER NUBER F Performance characteristics of NGS panel: Single base substitutions: accuracy >99%; reproducibility 100% (intra- and interassay); sensitivity 5-10% variant allele fraction with a minimum depth coverage of 250X. Insertion/deletion events: accuracy >99%; reproducibility 100% (intra- and interassay); sensitivity 5-10% variant allele fraction with a minimum depth coverage of 250X. This test was developed and its performance characteristics determined by ayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration. DISCLAIER CLINICAL DISCLAIER utation calls detected between 5-10% variant allele fractions (VAF) may indicate low-level (i.e. subclonal) tumor populations, although the clinical significance of these findings may not be clear. Some apparent mutations classified as VUS may represent rare or low frequency polymorphisms. A low incidence of gene mutations associated with myeloid neoplasms can also be detected in hematopoietic cells with advancing age in some individuals without evidence of a hematologic malignancy ("clonal hematopoiesis") and these alterations may not be clearly distinguishable from tumor-associated mutations (PID ; ; ). Prior treatment for hematologic malignancy could affect the results obtained in this assay. In particular, prior allogeneic hematopoietic stem cell transplant (HSCT) may cause difficulties in resolving somatic or polymorphic alterations, or in assigning variant calls correctly to donor and recipient fractions, if pertinent clinical or laboratory information (e.g. chimerism engraftment status) is not provided. Correlation with clinical, histopathologic and additional laboratory findings is required for final interpretation of these results. This assay does not distinguish between somatic and germ line alterations in analyzed gene regions, particularly with VAF near 50% or 100%. If nucleotide alterations in genes associated with germ line mutation syndromes are present and there is also a strong clinical suspicion or family history of malignant disease predisposition, additional genetic testing and appropriate counseling may be indicated. This report interpretation is based on current medical and scientific literature, but clinical significance may not be completely established for all reported target gene abnormalities identified. The final interpretation of results for clinical management of the patient is the responsibility of the managing physician. TECHNICAL DISCLAIER The depth of sequencing coverage may be variable for some target regions, but assay performance below the minimum acceptable criteria, or for failed regions are noted. Analysis of rare (low allele frequency) polymorphisms may be problematic in some cases. A low tumor cell percentage in the sample may affect the true mutation VAF and/or sensitivity. Suboptimal- performing regions (i.e. less than the expected minimum depth of coverage) may affect analytic sensitivity for detecting lower level mutations. This is a qualitative test. The variant read fractions are provided for information only and represent a relative proportion of mutated alleles, but do not indicate a measure of analytical sensitivity for the given genes; assay sensitivity is as stated in the method summary. Some genetic or genomic alterations, such as large insertion/deletion (indel) events, copy number alterations (CNA) and gene translocation events are not detected by this assay. PANEL GENE LIST ASXL1 (N_ ) exons 11-14, BCOR (N_ ) exons 5-, BRAF (N_ ) exon 15, CALR (N_ ) exon 9, CBL (N_ ) exon 8, intron 8, and exon 9, CEBPA (N_ ) exon 1, CSF3R (N_ ) exons 14 and 17, DNT3A (N_ ) exons 8-23, ETV6 (N_ ) exons 3-8, EZH2 (N_ ) exons 3-21, FLT3 (N_ ) exons 14-20, GATA1 (N_ ) exons 2 and 4, GATA2 (N_ ) exons 4-8, IDH1 (N_ ) exon 4, IDH2 (N_0028.3) exon 4, JAK2 (N_ ) exons 12-, KIT (N_ ) exons 8-11 and 17, KRAS (N_ ) exons 2-3, PATIENT NAE TESTINGRNV, REPORT -TL258 Form ID: ETCB Page 2 of 3
7 PATIENT NAE TESTINGRNV, REPORT PATIENT ID COLLECTED 10/20/20, 6:00 A DLP Rochester Rochester DATE OF BIRTH RECEIVED 10/20/20, 2:52 P N AGE Y SEX ale REPORTED 10/20/20, 3:01 P The collected, received and reported dates and times are in the time zone of the performing location. REQUESTED BY CLIENT CLIENT CLIENT ORDER NUBER CLIENT RN NGSH ORDER NUBER F PL (N_ ) exons 10-11, YD88 (N_ ) exon 5, NOTCH1 (N_ ) exons 26, 27, and 34, NP1 (N_ ) exons 9, 11, and 12, NRAS (N_ ) exons 2 and 3, PHF6 (N_ ) exons 2-10, PTPN11 (N_ ) exons 3-4 and 12-13, RUNX1 (N_ ) exons 4-10, SETBP1 (N_ ) partial exon 6; amino acids , SF3B1 (N_ ) exons 13-, SRSF2 (N_0030.4) exons 1 and 2, TERT (N_ ) exons 2-, TET2 (N_ ) exons 3-11, TP53 (N_ ) exons 4-9, U2AF1 (N_ ) exons 2, 7, and 9, WT1 (N_ Aas.3) exons 1-11, and ZRSR2 (N_ ) exons For some genes, the transcript IDs used in this analysis may not be the same as in other cancer mutation databases, such as COSIC ( REVIEWED BY Signing Pathologist: elissa Tricker-Klar CODE LABORATORY ADDRESS LAB DIRECTOR CR ayo Clinic Laboratories - Rochester ain Campus 200 FIRST STREET SW ROCHESTER N, WILLIA G ORICE, II, D, PhD Report times for Laboratory Name performed tests are CST/CDT. The collected, received, and reported dates and times on the report are in the time zone of the performing location. PATIENT NAE TESTINGRNV, REPORT -TL258 Form ID: ETCB Page 3 of 3
Laboratory Service Report
Specimen Type Peripheral blood CR PDF Report available at: https://test.mmlaccess.com/reports/c7028846-ih2xuglwpq.ashx Indication for Test DS CR Pathogenic utations Detected CR 1. JAK2: c.1849g>t;p.val617phe
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