Λίστα αντικειμένων
Agilent Acute Myeloid Leukemia (AML) Panel
NRAS, TP53, ASXL1, FLT3, IDH1, IDH2, JAK2, JAK3, NPM1, RUNX1, CBL, CEBPA, CSF3R, DNMT3A, EZH2, MPL, SF3B2, SRSF2, TET2, U2AF1.
OTHER NGS PANELS AVAILABLE
Agilent Cancer Panel
NRAS, ASXL1, FLT3, IDH1, IDH2, JAK2, JAK3, NPM1, RUNX1, SMAD4, ALK, ATM , CDKN2A, PTEN , STK11, ABL1, AKT1, BRAF , CSF1R , CTNNB1, EGFR , ERBB2, ERBB4, FANCA, FANCC, FANCF, FANCG , FGFR1, FGFR2, FGFR3, HRAS, KIT, KRAS, MAP2K1, MAP2K2, MAP2K4, MET, NOTCH1, PDGFRA, PIK3CA, PIK3R1, RET, SMO, SRC, VHL, WT1.
Inherited Cancer Panel
APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, EPCAM, FH, FLCN, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.
Neuroblastoma Gene Panel
ALK, ARID1A, ARID1B, ATRX, BARD1, CHD9, CHEK2, MYCN, NRAS, PHOX2B, PINK1, PTPN11, TP53.
Familial Hemophagocytic Lymphohistiocytosis (HLH) Panel
HLH: familial hemophagocytic lymphohistiocytosis, X- linked lymphoproliferative (XLP) syndromes 1 and 2, XMEN syndrome and lysinuric protein intolerance, Griscelli Syndrome with Hemophagocytic Syndrome, Chediak-Higashi syndrome, Hermansky Pudlak syndrome types 2 and 9, CD27 deficiency, ITK deficiency: AP3B1, BLOC1S6, CD27, ITK, LYST, PRF1, SH2D1A, SLC7A7, STX11, STXBP2, UNC13-D, XIAP, RAB27A.
Diamond Blackfan Anemia Panel
RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, TSR2.
Fancony Anemia Panel
FANCA, FANCC, FANCF, FANCG, BRIP1 (FANCJ), PALB2 (FANCN), RAD51C (FANCO), BRCA2, ERCC4 (FANCQ), FANCB, FANCD2, FANCE, FANCI, FANCL, FANCM, SLX4 (FANCP).
Bone Marrow Failure/Severe Combined Neutropenia Panel
Severe Congenital Neutropenia (SCN1-5), GATA1-related X-linked cytopenia, GATA2 deficiency, p14 deficiency, Chediak Higashi syndrome, Congenital amegakaryocytic thrombocytopeniam, WHIM syndrome, Griscelli syndrome type 2, Hermansky Pudlak type 2, Severe congenital neutropenia (germline); predisposition to MDS (somatic), Neutrophil immunodeficiency syndrome, Shwachman Diamond syndrome (SDS), Glycogen storage disease type IB, Familial bone marrow failure syndrome, Barth syndrome, Clericuzio-type poikiloderma with neutropenia, Cohen syndrome; congenital neutropenia with retinopathy, Wiskott Aldrich syndrome, X-linked: AP3B1, CSF3R, CXCR4, ELANE (ELA2), G6PC3, GATA1, GATA2, GFI1, HAX1, LAMTOR2 (ROBLD3), LYST, MPL, RAB27A, RAC2, SBDS, SLC37A4, SRP72, TAZ, USB1, VPS13B, VPS45, WAS.
Neurofibromatosis Gene Sequencing (NGS)
NF1, NF2
Chromosome Breakage Syndromes Panel
Ataxia-Telangiectasia, Bloom syndrome, Nijmegen breakage syndrome, LIG4 syndrome and NHEJ1 deficiency: ATM, BLM, LIG4, NBN, NHEJ1