Innovation in Next Generation Sequencing

Making Genomics Available and Affordable for Everyone

Hematology Profile

This test is designed to profile the molecular abnormalities in various hematologic neoplasms including:

-Myelodysplastic syndrome (MDS)/Chronic myelomonocytic leukemia (CMML): This assay is used for stratifying patients, determining prognosis and selecting therapy. This assay will not only determine the aggressiveness and prognosis of the MDS but will also determine if the patient has reactive cytopenia and will distinguish between CHIP (Clonal Hematopoiesis of Indeterminate Potential) or CCUS (Clonal Cytopenia of Unknown Significance) and MDS.

-Acute Myeloid Leukemia (AML): This test helps in the diagnosis of AML and distinguish between De Novo AML vs secondary AML.  It also helps in determining eligibility for treatment with FLT3 and IDH1/2 inhibitors. For a complete evaluation of translocations including all types of APL, Inv16, and t(8,21) and NUP98 translocations, we recommend ordering the GTC-Hematology PLUS panel.

-Myeloproliferative Neoplasms (MPN): This includes quantitative analysis of all exons of JAK2, CALR, and MPL.

-Lymphoma: Analysis of mutations reported in various types of lymphoma, including follicular, DLBCL, CLL, and T-cell lymphoma. However, for a complete evaluation of lymphoma including determining double hit lymphoma and diagnosis of ABC vs GBC, RNA adding the ordering GTC-Hematology PLUS panel is recommended.

-Multiple Myeloma: This panel detects mutations in the coding sequence of genes frequently mutated in MM, but for a thorough evaluation, we recommend ordering GTC-Hematology PLUS to cover expression abnormalities and chromosomal translocations.

Turn Around Time: 5-7 days

  • Bone marrow: 2 mL. EDTA tube is preferred.
  • Peripheral blood: 5 mL. EDTA tube is preferred.
  • Fresh Tissue
  • FFPE: 1 H&E slide and 6-10 unstained slides, 5-7 microns of BM clot or tissue fixed with 10% NBF fixative. Alternatively, the FFPE block of the BM clot can be sent for sectioning in our Lab.

Specimen Preparation and Shipping Guidelines

Use the Hematology Transport Kit or Solid Tumor Transport Kit (depending on the sample type)

  • 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 FFPE samples:

  • If sending FFPE Block-Insert up to 6 blocks into plastic block tray provided. Insert block tray into foam insert in the transport box.
  • If sending slides-Insert slides into plastic slide holders provided. Insert the slide holders into the foam insert in the transport box.  The container will hold up to 6 maximum slide holders.
  • Place folded test requisition(s) and/or manifest(s) if ordered electronically into the transport kit. 
  • Close box and tuck tabs into place. No tape necessary. 

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.

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.

Download our
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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