Innovation in Next Generation Sequencing

Making Genomics Available and Affordable for Everyone

Liquid Biopsy Hematology Profile

This test uses cell-free DNA (cfDNA) for detecting abnormalities in hematologic diseases. The test is particularly designed and offered to reduce the need for bone marrow biopsy. It is highly useful for patients presenting with cytopenia and to rule out MDS/CMML, MPN or other hematologic neoplasms. It can also be used for monitoring patients with hematologic neoplasms. Based on multiple studies, cfDNA can be more accurate in detecting abnormalities in bone marrow than bone marrow actual biopsy. Bone marrow biopsy might be limited to site of the biopsy, while the cfDNA reflects abnormalities in the entire body. Furthermore, based on our investigation, plasma is enriched by cancer-specific DNA/RNA due to the high turnover of tumor cells as compared with normal cells. This test is recommended for the diagnosis and follow up of:

–Myelodysplastic syndrome (MDS)/Chronic myelomonocytic leukemia (CMML): To determine if the patient has reactive cytopenia and to distinguish between CHIP (Clonal Hematopoiesis of Indeterminate Potential) or CCUS (Clonal Cytopenia of Unknown Significance) and MDS. –Acute Myeloid Leukemia (AML): To confirm diagnosis of AML and helps in determining eligibility for treatment with FLT3 and IDH1/2 inhibitors and evaluate minimal/measurable residual disease (MRD). It is particularly useful for pediatric and elderly patients. –Myeloproliferative Neoplasms (MPN): To confirm diagnosis and monitor MPN and evaluate levels of JAK2, CALR and MPL mutations. –Lymphoma: Liquid biopsy and cfDNA analysis is recommended for patients with lymphoma and specific mutations. The levels of the detected mutations can be used to monitor these diseases and evaluate therapy. Analysis of th e original diagnostic sample is required for proper and sensitive monitoring of lymphoma.

Turn Around Time: 5-7 days

  • Peripheral blood: 5-10 mL. EDTA tube is preferred.

Specimen Preparation and Shipping Guidelines

Use the Hematology Transport Kit 

  • Complete Requisition, making sure all sections are completed in their entirety including client information, patient Information, specimen Information and test Selection.  Missing information may delay reporting of test results.
  • Diagnosis/patient history is extremely important in rendering the correct interpretation of results and should also be filled out as completely as possible. A copy of a Path report should be included.
  • Ensure the specimen is labeled with patient name and number.  A minimum of two patient identifiers is required for each specimen.

 

For blood samples:

  • Ship using a cold pack. The cold pack should not directly contact the blood tube. Ship as soon as sample collected with overnight delivery.

1. Rogers A, Joe Y, Manshouri T, Dey A, Jilani I, Giles F, Estey E, Freireich E, Keating M, Kantarjian H, Albitar M. Relative increase in leukemia-specific DNA in peripheral blood plasma from patients with acute myeloid leukemia and myelodysplasia. Blood. 2004;103:2799–801. 2. Nakamura S, Yokoyama K, Shimizu E, Yusa N, Kondoh K, Ogawa M, Takei T, Kobayashi A, Ito M, Isobe M, Konuma T, Kato S, Kasajima R, Wada Y, Nagamura-Inoue T, Yamaguchi R, Takahashi S, Imoto S, Miyano S, Tojo A. Prognostic impact of circulating tumor DNA status post-allogeneic hematopoietic stem cell transplantation in AML and MDS. Blood. 2019 Jun 20;133(25):2682-2695. doi: 10.1182/blood-2018-10-880690. 3. Paul Yeh, Michael Dickinson, Sarah Ftouni, Tane Hunter, Devbarna Sinha, Stephen Q. Wong, Rishu Agarwal, Ravikiran Vedururu, Kenneth Doig, Chun Yew Fong, Piers Blombery, David Westerman, Mark A. Dawson and Sarah-Jane Dawson. Molecular disease monitoring using circulating tumor DNA in myelodysplastic syndromes. Blood. 2017;129(12):1685-1690. 4. Albitar A, Ma W, DeDios I, Estella J, Ahn I, Farooqui M, Wiestner A, Albitar M. Using high-sensitivity sequencing for the detection of mutations in BTK and PLCγ2 genes in cellular and cell-free DNA and correlation with progression in patients treated with BTK inhibitors. Oncotarget. 2017 Mar 14;8(11):17936-17944. doi: 10.18632/oncotarget.15316. PMID: 28212557 5. Albitar F, Ma W, Diep K, De Dios I, Agersborg S, Thangavelu M, Brodie S, Albitar M. Deep Sequencing of Cell-Free Peripheral Blood DNA as a Reliable Method for Confirming the Diagnosis of Myelodysplastic Syndrome. Genet Test Mol Biomarkers. 2016 Jul;20(7):341-5. doi: 10.1089/gtmb.2015.0278. PMID: 27248906 6. Aljurf M, Abalkhail H, Alseraihy A, Mohamed SY, Ayas M, Alsharif F, Alzahrani H, Al-Jefri A, Aldawsari G, Al-Ahmari A, Belgaumi AF, Walter CU, El-Solh H, Rasheed W, Albitar M. Chimerism Analysis of Cell-Free DNA in Patients Treated with Hematopoietic Stem Cell Transplantation May Predict Early Relapse in Patients with Hematologic Malignancies. Biotechnol Res Int. 2016;2016:8589270. doi: 10.1155/2016/8589270. 7. Ma W, Kantarjian H, Zhang X, Jilani I, Sheikholeslami MR, Donahue AC, Ravandi F, Estey E, O’Brien S, Keating M, Giles FJ, Albitar M. Detection of nucleophosmin gene mutations in plasma from patients with acute myeloid leukemia: clinical significance and implications. Cancer Biomark. 2009;5(1):51-8. doi: 10.3233/CBM-2009-0583. PMID: 19242062 8. Yeh CH, Tseng R, Albitar M. Plasma-based detection of clonality in lymphoid malignancies. Eur J Haematol. 2009 Jun;82(6):450-3. doi: 10.1111/j.1600-0609.2009.01231.x. PMID: 19187275. 9. Ma W, Kantarjian H, Zhang X, Sun W, Buller AM, Jilani I, Schwartz JG, Giles F, Albitar M. Higher detection rate of JAK2 mutation using plasma. Blood. 2008 Apr 1;111(7):3906-7. doi: 10.1182/blood-2008-02-139188. PMID: 18362222. 10. Giles FJ, Albitar M. Plasma-based testing as a new paradigm for clinical testing in hematologic diseases. Expert Rev Mol Diagn. 2007 Sep;7(5):615-23. Review. PMID: 17892367. 11. Ma W, Tseng R, Gorre M, Jilani I, Keating M, Kantarjian H, Cortes J, O’Brien S, Giles F, Albitar M. Plasma RNA as an alternative to cells for monitoring molecular response in patients with chronic myeloid leukemia. Haematologica. 2007 Feb;92(2):170-5. PMID: 17296565. 12. Ma W, Kantarjian H, Jilani I, Gorre M, Bhalla K, Ottmann O, Giles F, Albitar M. Heterogeneity in detecting Abl kinase mutations and better sensitivity using circulating plasma RNA. Leukemia. 2006 Nov;20(11):1989-91. Epub 2006 Aug 24. PMID: 16932346. 13. Ma W, Jilani I, Gorre M, Keating M, Chan H, Tseng R, Kantarjian H, O’Brien S, Giles FJ, Albitar M. Plasma as a source of mRNA for determining IgV(H) mutation status in patients with chronic lymphocytic leukaemia. Br J Haematol. 2006 Jun;133(6):690-2. 14. Jilani I, Estey E, Manshuri T, Caligiuri M, Keating M, Giles F, Thomas D, Kantarjian H, Albitar M. Better detection of FLT3 internal tandem duplication using peripheral blood plasma DNA. Leukemia. 2003 Jan;17(1):114-9. 15. Kurtz DM, Green MR, Bratman SV, Scherer F, Liu CL, Kunder CA, Takahashi K, Glover C, Keane C, Kihira S, Visser B, Callahan J, Kong KA, Faham M, Corbelli KS, Miklos D, Advani RH, Levy R, Hicks RJ, Hertzberg M, Ohgami RS, Gandhi MK, Diehn M, Alizadeh AA.Noninvasive monitoring of diffuse large B-cell lymphoma by immunoglobulin high-throughput sequencing. Blood. 2015 Jun 11;125(24):3679-87.

Genes validated and tested for Mutations in DNA testing for hematology

ABL1CDKN2CFLT4MEN1RAD50
ACVR1BCEBPAFOXL2METRAD51
AKT1CHEK1FUBP1MITFRAF1
AKT2CHEK2GALNT12MLH1RB1
AKT3CICGATA1MPLRET
ALKCREBBPGATA2MRE11ARHEB
AMER1CRLF2GATA3MSH2RHOA
APCCSF1RGEN1MSH6RIT1
ARCSF3RGNA11MTORRNF43
ARAFCTCFGNAQMUTYHROS1
ARID1ACTNNA1GNASMYCRUNX1
ARID1BCTNNB1GREM1MYCLSDHB
ARID2CUX1GRIN2AMYCNSETBP1
ASXL1CXCR4H3F3AMYD88SETD2
ATMCYLDHGFNF1SF3B1
ATRDAXXHIST1H3BNF2SMAD2
ATRXDDR2HNF1ANFE2L2SMAD4
AURKADICER1HOXB13NFKBIASMARCA4
AURKBDNM2HRASNKX2-1SMARCB1
AURKCDNMT3AHSP90AA1NOTCH1SMC1A
AXIN1DOT1LID3NOTCH2SMC3
AXIN2EEDIDH1NOTCH3SMO
B2MEGFRIDH2NPM1SOCS1
BAP1EGLN1IGF1RNRASSOX2
BCL2EP300IKZF1NSD1SOX9
BCL2L1EPAS1IKZF3NTRK1SPOP
BCL6EPHA3IL7RNTRK2SRC
BCOREPHA5INHBANTRK3SRSF2
BCORL1ERBB2IRF4PAK3STAG2
BCRERBB3JAK1PALB2STAT3
BIRC3ERBB4JAK2PAX5STK11
BLMERGJAK3PBRM1SUFU
BRAFESR1KAT6APDGFRASUZ12
BRCA1ETV6KDM5CPDGFRBTAL1
BRCA2EXO1KDM6APHF6TCF3
BRIP1EZH2KDRPIK3CATERT
BTKFAM175AKEAP1PIK3R1TET2
CALRFAM46CKITPIK3R2TGFBR2
CARD11FANCAKMT2APIM1TNFAIP3
CBLFANCCKMT2BPLCG1TNFRSF14
CBLBFANCD2KMT2CPMS1TP53
CBLCFANCEKMT2DPMS2TRAF3
CCND1FANCFKRASPOLD1TSC1
CCND3FANCGLRP1BPOLETSC2
CCNE1FASMAP2K1PPM1DTSHR
CD274FBXW7MAP2K2PPP2R1AU2AF1
CD79AFGF4MAP2K4PRDM1U2AF2
CD79BFGF6MAP3K1PRKAR1AVHL
CDC73FGFR1MAP3K14PRKDCWHSC1
CDH1FGFR2MAPK1PRSS1WT1
CDK12FGFR3MCL1PTCH1XPO1
CDK4FGFR4MDM2PTENXRCC2
CDK6FHMDM4PTPN11XRCC3
CDKN2AFLCNMED12RAC1ZNF217
CDKN2BFLT3MEF2BRAD21ZRSR2


How to complete the Genomic Testing Cooperative requisition form.

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Test Requisition

Keep in mind that we do not accept blood samples directly from individuals. Talk with your M.D. to fill out the form for you.

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