Test 28.
Hematologic Oncologic Diseases
Basic characteristcs of the clinical phenotype:
Hereditary hematologic malignancies include Fanconi anemia, leukemia, lymphoma, myelodysplastic syndrome, and others. These diseases have a diverse clinical presentation. They rank fifth in frequency among oncological diseases.
Indications for referral:
Ø Diagnosed hematological disease
Ø Presence of direct relatives with malignant hematological disease or other oncological disease
Ø Early onset of malignant hematological disease
Genetic testing aids in diagnosis, stratification of patients with respect to the risk of developing hematologic malignancies, aids in the selection of therapy, and prevention.
Method: Next-generation sequencing (NovaSeq6000, Illumina).
The method involves bi-directional DNA sequencing of all coding exons and intron-exon boundaries of the target genes. The laboratory offers Sanger sequencing of a single exon or a pair of exons in the patient's relatives to determine carrier status in cases where the mutation is known (Test #182).
Sensitivity of the method: depends on the content of GC and AT, as well as the presence of segmentally duplicated genes.
What does the test involve?
· DNA isolation and sample storage.
· Next generation sequencing.
· Bioinformatic analysis of sequencing data. For each patient, only data for the gene(s) of interest were analyzed.
Biological material: Venous blood or DNA
For more information, please read the "Biological material requirements and shipping information" carefully.
ABL1, ADA, ADA2, AKT1, ALAS2, ANKRD26, APOA1, APOA2, ARID1A, ARID1B, ARNTL, ASXL1, ASXL2, ATG2B, ATM, ATRX, BCL2, BCL6, BCOR, BCORL1, BIRC3, BIRC6, BLM, BRAF, BRCA1, BRCA2, BRCC3, BRD4, BRIP1, BTK, CALR, CARD11, CASP10, CBL, CBLB, CBLC, CCND1, CCND3, CCR4, CD27, CD40LG, CD70, CD79A, CD79B, CDH1, CDH11, CDKN2A, CEBPA, CHD2, CHEK2, CLSTN1, CREBBP, CRLF2, CSF1R, CSF3R, CST3, CTC1, CTCF, CTLA4, CTPS1, CUX1, CXCR4, DAXX, DDX41, DDX411, DDX54, DHX15, DHX29, DIS3, DKC1, DNAH5, DNAH9, DNAJC21, DNM2, DNMT1, DNMT3A, DOCK8, DTX1, EED, EFL1, EFTUD1, EGFR, ELANE, EP300, EPCAM, ERBB4, ERCC4, ERCC6L2, ETNK1, ETV6, EZH2, FADD, FAM47A, FAM5C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT1, FAT4, FBXO11, FBXW7, FGA, FLT3, FOXO1, FOXP1, FYN, G6PC3, GATA1, GATA2, GATA3, GFI1, GNA13, GNAS, GNB1, GSKIP, GSN, HAVCR2, HAX1, HIST1H1E, HNRNPK, HRAS, HVCN1, ID3, IDH1, IDH2, IGLL5, IKZF1, IKZF3, IL7R, IRF4, ITK, JAK1, JAK2, JAK3, KDM1A, KDM6A, KIF17, KIT, KLF2, KLHDC8B, KLHL6, KMT2A, KMT2C, KMT2D, KRAS, LIG4, LLGL2, LRRC4, LUC7L2, LYZ, MAGT1, MAML1, MAP2K1, MAP2K2, MBD4, MECOM, MED12, MEF2B, MGA, MLH1, MPL, MRTFA, MSH2, MSH6, MYBL2, MYC, MYD88, NAF1, NBN, NF1, NFKBIE, NHP2, NOP10, NOTCH1, NOTCH2, NOTCH3, NPAT, NPM1, NRAS, NT5C2, NXF1, PALB2, PARN, PAX5, PCLO, PDGFRA, PGM3, PHF6, PIAS2, PIGA, PIK3CD, PIK3R2, PIM1, PLCG1, PLCG2, PMS2, POT1, PPM1D, PRDM1, PRF1, PRKCB, PRMT5, PRPF40B, PRPF8, PRPS1, PSMB5, PTCH1, PTEN, PTPN11, PTPRD, PTPRT, RAD21, RAD51, RAD51C, RASGRP1, RB1, RBBP6, RBM8A, RECQL4, RELN, RHOA, RIT1, RPL11, RPL15, RPL18, RPL23, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RTEL1, RUNX1, RYR1, RYR2, SAMD9, SAMD9L, SAMHD1, SBDS, SETBP1, SETD2, SETDB1, SF1, SF3A1, SF3B1, SH2B3, SH2D1A, SLX4, SMARCA2, SMARCB1, SMC1A, SMC3, SOCS1, SOS1, SPEN, SPI1, SRP54, SRP72, SRSF2, STAG2, STAT3, STAT5B, STXBP2, SUZ12, SYK, SYNE1, TBL1XR1, TCF3, TCF4, TERC, TERF2IP, TERT, TET2, TINF2, TNFAIP3, TNFRSF13B, TNFRSF14, TNFRSF9, TP53, TRAF3, TTR, U2AF1, U2AF2, UBE2T, UBR5, UNC13D, USB1, USH2A, USP45, VAV1, VPS45, WAS, WHSC1, WRAP53, WT1, XPO1, XRCC2, ZBTB7A, ZNF43, ZRSR2
