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