DOCSLIB.ORG

Mayo Clinic Laboratories

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Mayo Clinic Laboratories Mayo Clinic Laboratories CMS IMPACTED Proc Code IMPACTED Test ID Test Name 81120 65661A IDH1 COMMON VARIANTS 81120 92361A IDH1 COMMON VARIANTS 81120 IDH12 IDH1/IDH2 MUTATION ANALYSIS, TUMOR 81120 NGAMT AML 4 Gene Panel, Therapeutic 81121 65661B IDH2 COMMON VARIANTS 81121 92361B IDH2 COMMON VARIANTS 81121 IDH12 IDH1/IDH2 MUTATION ANALYSIS, TUMOR 81121 NGAMT AML 4 Gene Panel, Therapeutic 81162 64330A BRCA1&2 SEQ & FULL DUP/DEL 81162 75231N BRCA1&2 GEN FULL SEQ DUP/DEL 81162 75241C BRCA1&2 GEN FULL SEQ DUP/DEL 81162 AJADD BRCA1/2 FULL GENE ADD ON 81162 BRCRC HEREDITARY BREAST/COLON PANEL 81162 FBRIN INTEGRATED BRACANALYSIS 81162 FBRMY BRACAnalysis with myRisk 81162 FCNEX CANCERNEXT 81163 75241D BRCA1&2 GENE FULL SEQ ALYS 81163 FBRIN INTEGRATED BRACANALYSIS 81170 BAKDM BCR/ABL1 MUTATION, SEQUENCING 81206 65248C BCR/ABL1 GENE MAJOR BP 81206 89006Z1 BCR/ABL1 GENE MAJOR BP 81206 B210R BCR/ABL1, P210, QUANT, REFLEX 81206 BADX BCR/ABL, RNA-Qual, Diagnostic 81206 BCRAB BCR/ABL, p210, Quant, Monitor 81206 BCRFX BCR/ABL1 REFLEX, QUAL/QUANT 81207 65248B BCR/ABL1 GENE MINOR BP 81207 89006Z2 BCR/ABL1 GENE MINOR BP 81207 B190R BCR/ABL1, P190, QUANT, REFLEX 81207 BA190 BCR/ABL, p190, Quant, Monitor 81207 BADX BCR/ABL, RNA-Qual, Diagnostic 81207 BCRFX BCR/ABL1 REFLEX, QUAL/QUANT 81208 65248A BCR/ABL1 GENE OTHER BP 81208 89006Z3 BCR/ABL1 GENE OTHER BP 81208 BADX BCR/ABL, RNA-Qual, Diagnostic 81208 BCRFX BCR/ABL1 REFLEX, QUAL/QUANT 81209 35350B BLM GENE 81209 AJPO Ashkenazi Jewish Panel Without CF 81210 36517A BRAF GENE 81210 75254A BRAF GENE 81210 BBRAF BRAF Analysis 81210 BRAFB CFDNA BRAF V600 TEST, BLOOD 81210 BRAFD BRAF V600 Somatic Mutation Analysis, Tumor 81210 RASFP RAS/RAF Panel, Tumor 81212 BRAJ3 BRCA ASHKENAZI JEWISH 3 SITE PANEL 81215 _G085 GENE BRCA1 81217 _G086 GENE BRCA 2 81218 CEBPA CEBPA Mutations, Sequencing 81219 CALR MPN, CALR Gene Mutation, Exon 9 81219 CALX CALR, Gene Mutation, Exon 9, Reflex 81219 MPNCM MPN (CALR, MPL) REFLEX 81220 CFP Cystic Fibrosis Mutation Panel 81221 _G003 Gene CFTR_SEQ 81222 35388A CFTR GENE DUP/DELET VARIANTS 81222 35640D CFTR GENE DUP/DELET VARIANTS Mayo Clinic Laboratories 81222 CFTRZ CFTR Gene, Full Gene Analysis 81222 _G004 Gene CFTR_MLPA 81222 HPPAN Hereditary Pancreatitis Panel 81223 35388B CFTR GENE FULL SEQUENCE 81223 35640C CFTR GENE FULL SEQUENCE 81223 75261F CFTR GENE FULL SEQUENCE 81223 CFTRZ CFTR Gene, Full Gene Analysis 81223 FCFP2 FORESIGHT CARRIER SCRN SEQUENCING 81223 HPPAN Hereditary Pancreatitis Panel 81225 2C19V CYP2C19 GENOTYPE 81225 57750A CYP2C19 GENE COM VARIANTS 81225 65871C CYP2C19 GENE COM VARIANTS 81225 75077B CYP2C19 GENE COM VARIANTS 81225 75279B CYP2C19 GENE COM VARIANTS 81225 FGSP GENESIGHT PSYCHOTROPIC 81225 FOR7 CYP2C19 81225 FORTM OneOme RightMed 81225 FRT19 CYP2C19 81225 FRTMD ONEOME RIGHTMED 81225 PSYGP Psychotropic PGx Panel 81226 57750B CYP2D6 GENE COM VARIANTS 81226 65871B CYP2D6 GENE COM VARIANTS 81226 75077A CYP2D6 GENE COM VARIANTS 81226 75279C CYP2D6 GENE COM VARIANTS 81226 FGSP GENESIGHT PSYCHOTROPIC 81226 FOR8 CYP2D6 81226 FORTM OneOme RightMed 81226 FRTD6 CYP2D6 81226 FRTMD ONEOME RIGHTMED 81226 PSYGP Psychotropic PGx Panel 81227 2C9GV CYP2C9 GENOTYPING TEST 81227 57750C CYP2C9 GENE COM VARIANTS 81227 65871D CYP2C9 GENE COM VARIANT 81227 75077E CYP2C9 GENE COM VARIANTS 81227 75279D CYP2C9 GENE COM VARIANTS 81227 FGSP GENESIGHT PSYCHOTROPIC 81227 FOR5 CYP2C9 81227 FORTM OneOme RightMed 81227 FRTC9 CYP2C9 81227 FRTMD ONEOME RIGHTMED 81227 PSYGP Psychotropic PGx Panel 81235 EGFRD CFDNA EGFR MUTATION ANALYSIS, BLOOD 81235 EGFRR Lung Cancer, EGFR with ALK Reflex 81235 EGFRT EGFR Gene, Mutation Analysis, Tumor 81235 T790M CFDNA EGFR T790M TEST, BLOOD 81245 19739Z FLT3 GENE 81245 65661C FLT3 GENE 81245 FLT FLT3 Mutation Analysis, V 81245 NGAMT AML 4 Gene Panel, Therapeutic 81246 19739D FLT3 GENE ANALYSIS 81246 65661D FLT3 GENE ANALYSIS 81246 FLT FLT3 Mutation Analysis, V 81246 NGAMT AML 4 Gene Panel, Therapeutic 81256 HFE Hemochromatosis HFE Gene Analysis,B 81261 31141Z3 IGH GENE REARRANGE AMP METH Mayo Clinic Laboratories 81261 31142Z3 IGH GENE REARRANGE AMP METH 81261 83123Z3 IGH GENE REARRANGE AMP METH 81261 BCGBM Immunoglobulin Gene Rearrange, BM 81261 BCGR Immunoglobulin Gene Rearrange, B 81261 BCGRV Immunoglobulin Gene Rearrange, V 81263 BCLL IGH Somatic Hypermutation in B-CLL 81264 31141Z2 IGK REARRANGEABN CLONAL POP 81264 31142Z2 IGK REARRANGEABN CLONAL POP 81264 83123Z2 IGK REARRANGEABN CLONAL POP 81264 BCGBM Immunoglobulin Gene Rearrange, BM 81264 BCGR Immunoglobulin Gene Rearrange, B 81264 BCGRV Immunoglobulin Gene Rearrange, V 81265 CHRGB Chimerism-Recipient Germline 81265 MULT Zygosity Testing 81265 SPECI Specimen Source Identification 81265 _STR1 Comp analysis using STR (Bill only) 81266 ADONO ADDITIONAL CHIMERISM DONOR 81266 _STR2 Add'l comp analysis w/STR (Bill Only) 81267 CHIMU CHIMERISM TRANSPLANT NO CELL SORT 81268 SORT1 CHIMERISM CELL SORT 1 81268 SORT2 CHIMERISM CELL SORT 2 81270 88715A JAK2 GENE 81270 JAK2B JAK2 V617F Mutation Detection, B 81270 JAK2M JAK2 V617F MUTATION DETECTION, BM 81270 JAK2V JAK2 V617F MUTATION DETECTION, V 81270 MPNR MPN (JAK2 V617F, CALR, MPL) Reflex 81270 PVJAK JAK2 EXON 12-15 SEQUENCING, REFLEX 81272 35342B KIT GENE TARGETED SEQ ANALYS 81272 GISTP GIST Panel, Tumor 81272 KIT9 KIT exon 9, Mutation Analysis 81272 KITE KIT MUTATION, HEMATOLOGIC NEOPLASM 81273 KITVS KIT Asp816Val Mutation Analysis, V 81275 36517B KRAS GENE 81275 68003A KRAS GENE 81275 75254B KRAS GENE VARIANTS EXON 2 81275 KRASC KRAS Mutation Analysis, Colorectal 81275 KRASD CFDNA KRAS 12, 13, 61, 146 BLOOD 81275 KRASO KRAS Mutation Analysis, Other 81275 RASFP RAS/RAF Panel, Tumor 81276 68003B KRAS GENE ADDL VARIANTS 81276 KRASD CFDNA KRAS 12, 13, 61, 146 BLOOD 81287 MGMT MGMT Promoter Methylation, Tumor 81301 TMSI Tumor, Microsatellite Instability 81305 LPLFX REFLEX TESTING OF MYD88 AND CXCR4 81305 MYD88 MYD88 L265P Gene Mutation Analysis 81310 NPM1Q NPM1 Mutation Analysis, V 81311 36517E NRAS GENE VARIANTS EXON 2&3 81311 63161E NRAS GENE VARIANTS EXON 2&3 81311 65562C NRAS GENE VARIANTS EXON 2&3 81311 75254G NRAS GENE VARIANTS EXON 2&3 81311 NSRGP Noonan Syndrome and Related Panel,B 81311 PMNSR POSTMORTEM NOONAN AND RELATED PANEL 81311 RASFP RAS/RAF Panel, Tumor 81313 FPPCA PCA3 81314 35342C PDGFRA GENE Mayo Clinic Laboratories 81314 GISTP GIST Panel, Tumor 81315 PMLR PML/RARA QUANTITATIVE,PCR 81335 75279N TPMT GENE COM VARIANTS 81335 FOR27 TPMT 81335 FORTM OneOme RightMed 81335 FRTMD ONEOME RIGHTMED 81335 FRTTP TPMT 81340 31139Z1 TRB@ GENE REARRANGE AMPLIFY 81340 31140Z1 tTRB@ GENE REARRANGE AMPLIFY 81340 83122Z1 TRB@ GENE REARRANGE AMPLIFY 81340 TCGBM T Cell Receptor Gene Rearrange, BM 81340 TCGR T Cell Receptor Gene Rearrange, B 81340 TCGRV T Cell Receptor Gene Rearrange, V 81340 TCRVB TCR Spectratyping, B 81342 31139Z2 TRG GENE REARRANGEMENT ANAL 81342 31140Z2 TRG GENE REARRANGEMENT ANAL 81342 83122Z2 TRG GENE REARRANGEMENT ANAL 81342 TCGBM T Cell Receptor Gene Rearrange, BM 81342 TCGR T Cell Receptor Gene Rearrange, B 81342 TCGRV T Cell Receptor Gene Rearrange, V 81345 TERT TERT PROMOTER ANALYSIS, TUMOR 81371 68300C HLA I & II TYPE VERIFY LR 81371 68301C HLA I & II TYPE VERIFY LR 81371 CFABR HLA A,B,DR Mol. Phenotype, Confirm 81371 LRBUD LR ABDR, Related Donor, Swab 81371 LRBUR Confirm Typing, Recip, Swab 81371 LRDNR LR ABDR, Related Donor 81371 LRREC Confirmatory Typing, Recipient 81372 1DIS HLA-A-B-C DisAssoc Typing LowRes,B 81372 609354A HLA I TYPING COMPLETE LR 81372 SSO1 HLA CLASS I MOL. PHENOTYPE, B 81373 CFC HLA C Mol. Phenotype, Confirm 81373 CFCQP HLA C,DQ,DP Mol. Phenotype, Confirm 81375 SSOII HLA CLASS II MOL. PHENOTYPE, B 81376 2DIS HLA-DR-DQ DisAssoc Typing LowRes,B 81376 31928A HLA II TYPING 1 LOCUS LR 81376 609356A HLA II TYPING 1 LOCUS LR 81376 88906A HLA II TYPING 1 LOCUS LR 81376 CDCOM Celiac Disease Comprehensive Cascade 81376 CDGF Celiac Disease Gluten-Free Cascade 81376 CELI Celiac Associated HLA-DQ Typing 81376 CELI2 HLA-DQ Typing 81376 CFCQP HLA C,DQ,DP Mol. Phenotype, Confirm 81376 CFCQP HLA C,DQ,DP Mol. Phenotype, Confirm 81376 CFDP HLA DPB1 Mol. Phenotype, Confirm 81376 CFDQ HLA DQB1 Mol. Phenotype, Confirm 81376 NARC NARCOLEPSY ASSOCIATED AG 81379 68295A HLA I TYPING COMPLETE HR 81379 68296A HLA I TYPING COMPLETE HR 81379 68297B HLA I TYPING COMPLETE HR 81379 HRDNR HR Class I and II, Related Donor 81379 HRMDB HR Class I and II, NMDP Donor 81379 HRREC HR Class I and II, Recipient 81379 HRSI HIGH RESOLUTION CLASS I PHENOTYPE 81380 91498Z UNLISTED MOLECULAR PATHOLOGY Mayo Clinic Laboratories 81380 91499Z HLA I TYPING 1 LOCUS HR 81380 91500Z HLA I TYPING 1 LOCUS HR 81380 FHLAA HLA A High Res by DNA Seq 81380 FHLAB HLA B High Res by DNA Seq 81380 FHLAC HLA C High Res by DNA Seq 81381 57750F HLA I TYPING 1 ALLELE HR 81381 64368A HLA I TYPING 1 ALLELE HR 81381 64369A HLA I TYPING 1 ALLELE HR 81381 65871H HLA I TYPING 1 ALLELE HR 81381 75077D HLA I TYPING 1 ALLELE HR 81381 75358A HLA I TYPING 1 ALLELE HR 81381 75431A HLA I TYPING 1 ALLELE HR 81381 CARPB CARBAMAZEPINE PGX PANEL, B 81381 CARPO CARBAMAZEPINE PGX PANEL, SALIVA 81381 FGSP GENESIGHT PSYCHOTROPIC 81381 FLAPG HLA-A 81381 FLBPG HLA-B 81381 FOR18 HLA-A 81381 FOR19 HLA-B 81381 FORTM OneOme RightMed 81381 FORTM OneOme RightMed 81381 FRTMD ONEOME RIGHTMED 81381 FRTMD ONEOME RIGHTMED 81381 HL57V HLA-B 5701 Genotype, PGx 81381 HL58O HLA-B 5801, Allopurinol, Saliva 81381 HLA58 HLA-B 5801 Genotype, Allopurinol, B 81381 PSYGP Psychotropic PGx Panel 81382 68295B HLA II TYPING 1 LOC HR 81382 68296B HLA II TYPING 1 LOC HR 81382 68297A HLA II TYPING 1 LOC HR 81382 DPHRS High
Load more

Recommended publications
  • A Reciprocal Effort Towards Better Approaches for Drug Discovery
    Acta Pharmacologica Sinica (2013) 34: 765–776 npg © 2013 CPS and SIMM All rights reserved 1671-4083/13 $32.00 www.nature.com/aps Review iPSCs and small molecules: a reciprocal effort towards better approaches for drug discovery Ru ZHANG1, Li-hong ZHANG2, Xin XIE1, 2, * 1Laboratory of Receptor-based Bio-medicine, Shanghai Key Laboratory of Signaling and Disease Research, School of Life Sciences and Technology, Tongji University, Shanghai 200092, China; 2CAS Key Laboratory of Receptor Research, the National Center for Drug Screening, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China The revolutionary induced pluripotent stem cell (iPSC) technology provides a new path for cell replacement therapies and drug screen- ing. Patient-specific iPSCs and subsequent differentiated cells manifesting disease phenotypes will finally position human disease pathology at the core of drug discovery. Cells used to test the toxic effects of drugs can also be generated from normal iPSCs and pro- vide a much more accurate and cost-effective system than many animal models. Here, we highlight the recent progress in iPSC-based cell therapy, disease modeling and drug evaluations. In addition, we discuss the use of small molecule drugs to improve the genera- tion of iPSCs and understand the reprogramming mechanism. It is foreseeable that the interplay between iPSC technology and small molecule compounds will push forward the applications of iPSC-based therapy and screening systems in the real world and eventually revolutionize the methods used to treat diseases. Keywords: induced pluripotent stem cells (iPSCs); disease modeling; drug screening; toxicity evaluation; cell replacement therapy; small molecules; drug development Acta Pharmacologica Sinica (2013) 34: 765–776; doi: 10.1038/aps.2013.21; published online 22 Apr 2013 Introduction his/her own iPSCs[1–3].
    [Show full text]
  • A Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
    Page 1 of 781 Diabetes A Computational Approach for Defining a Signature of β-Cell Golgi Stress in Diabetes Mellitus Robert N. Bone1,6,7, Olufunmilola Oyebamiji2, Sayali Talware2, Sharmila Selvaraj2, Preethi Krishnan3,6, Farooq Syed1,6,7, Huanmei Wu2, Carmella Evans-Molina 1,3,4,5,6,7,8* Departments of 1Pediatrics, 3Medicine, 4Anatomy, Cell Biology & Physiology, 5Biochemistry & Molecular Biology, the 6Center for Diabetes & Metabolic Diseases, and the 7Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202; 2Department of BioHealth Informatics, Indiana University-Purdue University Indianapolis, Indianapolis, IN, 46202; 8Roudebush VA Medical Center, Indianapolis, IN 46202. *Corresponding Author(s): Carmella Evans-Molina, MD, PhD ([email protected]) Indiana University School of Medicine, 635 Barnhill Drive, MS 2031A, Indianapolis, IN 46202, Telephone: (317) 274-4145, Fax (317) 274-4107 Running Title: Golgi Stress Response in Diabetes Word Count: 4358 Number of Figures: 6 Keywords: Golgi apparatus stress, Islets, β cell, Type 1 diabetes, Type 2 diabetes 1 Diabetes Publish Ahead of Print, published online August 20, 2020 Diabetes Page 2 of 781 ABSTRACT The Golgi apparatus (GA) is an important site of insulin processing and granule maturation, but whether GA organelle dysfunction and GA stress are present in the diabetic β-cell has not been tested. We utilized an informatics-based approach to develop a transcriptional signature of β-cell GA stress using existing RNA sequencing and microarray datasets generated using human islets from donors with diabetes and islets where type 1(T1D) and type 2 diabetes (T2D) had been modeled ex vivo. To narrow our results to GA-specific genes, we applied a filter set of 1,030 genes accepted as GA associated.
    [Show full text]
  • UC San Francisco Electronic Theses and Dissertations
    UCSF UC San Francisco Electronic Theses and Dissertations Title Chemical genetic approaches to study protein kinase signaling pathways Permalink https://escholarship.org/uc/item/0sn1j4nk Author Hertz, Nicholas T. Publication Date 2013 Peer reviewed|Thesis/dissertation eScholarship.org Powered by the California Digital Library University of California Copyright 2013 by Nicholas T. Hertz ii Acknowledgements I would like to thank Kevan for his support, insight, encouragement and enthusiasm for science. I would also like to thank Al for all of his support and encouragement. My parents were instrumental in me getting to this point and I want to thank them for their continued support and my wife Janel for everything. Part of this thesis is a reproduction of material previously published, and contains contributions from collaborators listed therein. Chapter 1 is reproduced in part with permission from: Hertz, N.T., Wang, B.T., Allen, J.J., Zhang, C., Dar, A.C., Burlingame, A.L., and Shokat, K.M., Chemical genetic approach for kinase-substrate mapping by covalent capture of thiophosphopeptides and analysis by mass spectrometry, Current Protocols in Chemical Biology. 2010, February; 2:(15-36). Chapter 2 is reproduced in part with permission from: Ultanir, S.K.*, Hertz, N.T.*, Li, G., Ge1, W.P., Burlingame, A.L., Pleasure, S.J., Shokat, K.M., Jan, L.Y., and Jan, Y., Chemical genetic identification of NDR1/2 kinase substrates AAK1 and Rabin8 uncovers their roles in controlling dendrite arborization and synapse maturation. Neuron. 2012, March 22; 73:1127-42. Chapter 3 is reproduced in part with permission from: Hengeveld, R.C.C.*, Hertz, N.T.*, Vromans, M.J.M., Zhang, C., Burlingame, A.L., Shokat, K.M., Lens, S.M.A., Development of a chemical genetic approach for human Aurora B kinase identifies novel substrates of the chromosomal passenger complex.
    [Show full text]
  • 1714 Gene Comprehensive Cancer Panel Enriched for Clinically Actionable Genes with Additional Biologically Relevant Genes 400-500X Average Coverage on Tumor
    xO GENE PANEL 1714 gene comprehensive cancer panel enriched for clinically actionable genes with additional biologically relevant genes 400-500x average coverage on tumor Genes A-C Genes D-F Genes G-I Genes J-L AATK ATAD2B BTG1 CDH7 CREM DACH1 EPHA1 FES G6PC3 HGF IL18RAP JADE1 LMO1 ABCA1 ATF1 BTG2 CDK1 CRHR1 DACH2 EPHA2 FEV G6PD HIF1A IL1R1 JAK1 LMO2 ABCB1 ATM BTG3 CDK10 CRK DAXX EPHA3 FGF1 GAB1 HIF1AN IL1R2 JAK2 LMO7 ABCB11 ATR BTK CDK11A CRKL DBH EPHA4 FGF10 GAB2 HIST1H1E IL1RAP JAK3 LMTK2 ABCB4 ATRX BTRC CDK11B CRLF2 DCC EPHA5 FGF11 GABPA HIST1H3B IL20RA JARID2 LMTK3 ABCC1 AURKA BUB1 CDK12 CRTC1 DCUN1D1 EPHA6 FGF12 GALNT12 HIST1H4E IL20RB JAZF1 LPHN2 ABCC2 AURKB BUB1B CDK13 CRTC2 DCUN1D2 EPHA7 FGF13 GATA1 HLA-A IL21R JMJD1C LPHN3 ABCG1 AURKC BUB3 CDK14 CRTC3 DDB2 EPHA8 FGF14 GATA2 HLA-B IL22RA1 JMJD4 LPP ABCG2 AXIN1 C11orf30 CDK15 CSF1 DDIT3 EPHB1 FGF16 GATA3 HLF IL22RA2 JMJD6 LRP1B ABI1 AXIN2 CACNA1C CDK16 CSF1R DDR1 EPHB2 FGF17 GATA5 HLTF IL23R JMJD7 LRP5 ABL1 AXL CACNA1S CDK17 CSF2RA DDR2 EPHB3 FGF18 GATA6 HMGA1 IL2RA JMJD8 LRP6 ABL2 B2M CACNB2 CDK18 CSF2RB DDX3X EPHB4 FGF19 GDNF HMGA2 IL2RB JUN LRRK2 ACE BABAM1 CADM2 CDK19 CSF3R DDX5 EPHB6 FGF2 GFI1 HMGCR IL2RG JUNB LSM1 ACSL6 BACH1 CALR CDK2 CSK DDX6 EPOR FGF20 GFI1B HNF1A IL3 JUND LTK ACTA2 BACH2 CAMTA1 CDK20 CSNK1D DEK ERBB2 FGF21 GFRA4 HNF1B IL3RA JUP LYL1 ACTC1 BAG4 CAPRIN2 CDK3 CSNK1E DHFR ERBB3 FGF22 GGCX HNRNPA3 IL4R KAT2A LYN ACVR1 BAI3 CARD10 CDK4 CTCF DHH ERBB4 FGF23 GHR HOXA10 IL5RA KAT2B LZTR1 ACVR1B BAP1 CARD11 CDK5 CTCFL DIAPH1 ERCC1 FGF3 GID4 HOXA11 IL6R KAT5 ACVR2A
    [Show full text]
  • Supplementary Table 2
    Supplementary Table 2. Differentially Expressed Genes following Sham treatment relative to Untreated Controls Fold Change Accession Name Symbol 3 h 12 h NM_013121 CD28 antigen Cd28 12.82 BG665360 FMS-like tyrosine kinase 1 Flt1 9.63 NM_012701 Adrenergic receptor, beta 1 Adrb1 8.24 0.46 U20796 Nuclear receptor subfamily 1, group D, member 2 Nr1d2 7.22 NM_017116 Calpain 2 Capn2 6.41 BE097282 Guanine nucleotide binding protein, alpha 12 Gna12 6.21 NM_053328 Basic helix-loop-helix domain containing, class B2 Bhlhb2 5.79 NM_053831 Guanylate cyclase 2f Gucy2f 5.71 AW251703 Tumor necrosis factor receptor superfamily, member 12a Tnfrsf12a 5.57 NM_021691 Twist homolog 2 (Drosophila) Twist2 5.42 NM_133550 Fc receptor, IgE, low affinity II, alpha polypeptide Fcer2a 4.93 NM_031120 Signal sequence receptor, gamma Ssr3 4.84 NM_053544 Secreted frizzled-related protein 4 Sfrp4 4.73 NM_053910 Pleckstrin homology, Sec7 and coiled/coil domains 1 Pscd1 4.69 BE113233 Suppressor of cytokine signaling 2 Socs2 4.68 NM_053949 Potassium voltage-gated channel, subfamily H (eag- Kcnh2 4.60 related), member 2 NM_017305 Glutamate cysteine ligase, modifier subunit Gclm 4.59 NM_017309 Protein phospatase 3, regulatory subunit B, alpha Ppp3r1 4.54 isoform,type 1 NM_012765 5-hydroxytryptamine (serotonin) receptor 2C Htr2c 4.46 NM_017218 V-erb-b2 erythroblastic leukemia viral oncogene homolog Erbb3 4.42 3 (avian) AW918369 Zinc finger protein 191 Zfp191 4.38 NM_031034 Guanine nucleotide binding protein, alpha 12 Gna12 4.38 NM_017020 Interleukin 6 receptor Il6r 4.37 AJ002942
    [Show full text]
  • Rectifier of Aberrant Mrna Splicing Recovers Trna Modification in Familial Dysautonomia
    Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia Mayumi Yoshidaa, Naoyuki Kataokab,1, Kenjyo Miyauchic, Kenji Ohea,d, Kei Iidaa,e, Suguru Yoshidaf, Takayuki Nojimag, Yukiko Okunoa,e, Hiroshi Onogia,h, Tomomi Usuii, Akihide Takeuchia, Takamitsu Hosoyaf, Tsutomu Suzukic, and Masatoshi Hagiwaraa,1 aDepartment of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Kyoto 606-8501, Japan; bLaboratory for Malignancy Control Research, Medical Innovation Center, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan; cDepartment of Chemistry and Biotechnology, School of Engineering, The University of Tokyo, Tokyo 113-8510, Japan; dKyoto University Graduate School of Medicine, Kyoto 606-8501, Japan; eMedical Research Support Center, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan; fLaboratory of Chemical Bioscience, Institute of Biomaterials and Bioengineering, Tokyo Medical and Dental University, Tokyo 101-0062, Japan; gSir William Dunn School of Pathology, University of Oxford, Oxford OX1 3RE, United Kingdom; hKinoPharma, Inc., Tokyo 154-0024, Japan; and iLaboratory of Gene Expression, School of Biomedical Science, Tokyo Medical and Dental University, Tokyo 113-8510, Japan Edited by Gideon Dreyfuss, University of Pennsylvania, Philadelphia, PA, and approved December 30, 2014 (received for review August 12, 2014) Familial dysautonomia (FD), a hereditary sensory and autonomic pneumonia, vomiting/dysautonomic crisis, gastrointestinal dys- neuropathy, is caused by missplicing of exon 20, resulting from an function, decreased sensitivity to pain and temperature, and intronic mutation in the inhibitor of kappa light polypeptide gene defective lacrimation. FD is a very common disorder in the enhancer in B cells, kinase complex-associated protein (IKBKAP) Ashkenazi Jewish population, with a carrier frequency of 1 in 27.
    [Show full text]
  • Whole Transcriptomic Expression Differences in EBV Immortalized Versus Primary B-Cells
    W&M ScholarWorks Undergraduate Honors Theses Theses, Dissertations, & Master Projects 12-2010 Whole Transcriptomic Expression Differences in EBV Immortalized versus Primary B-Cells Dolores Huberts College of William and Mary Follow this and additional works at: https://scholarworks.wm.edu/honorstheses Part of the Biology Commons Recommended Citation Huberts, Dolores, "Whole Transcriptomic Expression Differences in EBV Immortalized versus Primary B- Cells" (2010). Undergraduate Honors Theses. Paper 347. https://scholarworks.wm.edu/honorstheses/347 This Honors Thesis is brought to you for free and open access by the Theses, Dissertations, & Master Projects at W&M ScholarWorks. It has been accepted for inclusion in Undergraduate Honors Theses by an authorized administrator of W&M ScholarWorks. For more information, please contact [email protected]. Whole Transcriptomic Expression Differences in EBV Immortalized versus Primary B-Cells A thesis submitted in partial fulfillment of the requirement for the degree of Bachelor of Science with Honors in Biology from the College of William and Mary in Virginia By Dolores Huberts Accepted for Honors ________________________________________ Lizabeth A. Allison, Director ________________________________________ Matthew Wawersik ________________________________________ Drew LaMar ________________________________________ Beverly Sher Williamsburg, Virginia December 17, 2010 ABSTRACT The Epstein–Barr Virus (EBV) is a human gamma herpes virus that infects more than 90% of the human population worldwide. It is commonly known in the US as the cause of Infectious Mononucleosis, and around the world as the cause of nasopharyngeal carcinoma and malignant lymphomas such as non-Hodgkin lymphoma, endemic Burkett’s lymphoma and Hodgkin lymphoma. Additionally, the EBV is used to immortalize cells to create cell lines for in-vitro studies.
    [Show full text]
  • Inherited Neuropathies: Emerging Genetic Therapies
    5th Congress of the European Academy of Neurology Oslo, Norway, June 29 - July 2, 2019 Teaching Course 3 EAN/PNS: Novel approach in the treatment of neuropathy (Level3) Inherited neuropathies: Emerging genetic therapies Mary M. Reilly London, United Kingdom Email: [email protected] 09/07/2019 Mary M Reilly MRC centre for Neuromuscular Diseases, Institute of Neurology, Queen Square, London, UK. IONIS TTR trial Consultancy Alnylam Inflectis Acceleron Akcea Myotherix 1 09/07/2019 1. Introduction 2. Barriers to therapy development 3. Classification of therapies 4. Emerging therapies 2. Barriers to therapy development 3. Classification of therapies 4. Emerging therapies 2 09/07/2019 Charcot Marie Tooth disease 1. Sole / primary e.g. CMT 2. Part of multisystem disorder 3 09/07/2019 2. Part of multisystem disorder 1. Charcot-Marie-Tooth disease (CMT) 2. Hereditary Neuropathy with liability to pressure palsies (HNPP) 3. Hereditary sensory neuropathies (HSN / HSAN) 4. Distal hereditary motor neuropathies (HMN) 4 09/07/2019 5 09/07/2019 17p, LITAF, DYNC1H1, BICD2, REEP1, HSPB3, EGR2, FBLN5, SLC5A7, FBXO38, SETX, PMP22, PMP2 DCTN1, 7q34, WARS, MFN2, NEFL, MYH14 SPTLC1, GDAP1, MPZ, GJB1, SPTLC2, LRSAM1, YARS, INF2, ATL1, NEFH, DRP2, Xq27.1, MARS, ATL3, DNM2, KIF5A, DNMT1, GNB4 ATP1A1, SCN11A, VCP, TFG, SCN9A DHTKD1, TUBB3, NAGLU, DCAF8, PRNP, DGAT2, PDK3 COL6A5, RNF170 MORC2, HSPB8, HSPB1, TRPV4, GARS, BSCL2 AARS, HARS, CHCHD10 RAB7 SH3TC2, EGR2, MTMR2, NDRG1, SIGMAR1, SBF2, SBF1, CTDP1, SURF1, VRK1, ATP7A, UBA1, FGD4, FIG4, HK1, PRX, GLE1, LAS1L WNK1, LMNA, CNTNAP1, NEFL, FAM134B, PNKP, GDAP1, ADCY6 KIF1A, TRIM2, KARS, DST, SPG11, COX6A1 NTRK1, MME, PIEZO2, MCM3AP, SCN9A, SLC25A46, IKBKAP, SCO2, MPV17, PLEKHG5 PRDM12, LRSAM1, CLTCL1, C12orf65, CCT5, AIFM1, FLVCR1, PRPS1 NGF HINT1, DNAJB2, IGHMBP2 6 09/07/2019 1.
    [Show full text]
  • Familial Dysautonomia Model Reveals Ikbkap Deletion Causes Apoptosis Of
    Familial dysautonomia model reveals Ikbkap deletion + causes apoptosis of Pax3 progenitors and peripheral neurons Lynn Georgea,b,1, Marta Chaverraa,1, Lindsey Wolfea, Julian Thornea, Mattheson Close-Davisa, Amy Eibsa, Vickie Riojasa, Andrea Grindelandc, Miranda Orrc, George A. Carlsonc, and Frances Lefcorta,2 aDepartment of Cell Biology and Neuroscience, Montana State University, Bozeman, MT 59717; bDepartment of Biological and Physical Sciences, Montana State University Billings, Billings, MT 59101; and cMcLaughlin Research Institute, Great Falls, MT 59405 Edited by Qiufu Ma, Dana-Farber Cancer Institute, Boston, MA, and accepted by the Editorial Board October 7, 2013 (received for review May 8, 2013) Familial dysautonomia (FD) is a devastating developmental and thermoreceptors, mechanoreceptors and proprioceptors. With progressive peripheral neuropathy caused by a mutation in the gene the completion of neural crest migration, multiple steps ensue inhibitor of kappa B kinase complex-associated protein (IKBKAP). that are essential for normal PNS development, including pro- To identify the cellular and molecular mechanisms that cause FD, liferation of discrete sets of neuronal progenitor cells that derive we generated mice in which Ikbkap expression is ablated in the from different waves of migrating neural crest cells, neuronal peripheral nervous system and identify the steps in peripheral differentiation, axonogenesis, target innervation, and circuit nervous system development that are Ikbkap-dependent. We formation. FD could theoretically result from failure in any or show that Ikbkap is not required for trunk neural crest migration several of these key developmental processes. or pathfinding, nor for the formation of dorsal root or sympathetic Insight into the mechanisms that cause FD have been com- ganglia, or the adrenal medulla.
    [Show full text]
  • IKAP Antibody (Pab)
    21.10.2014IKAP antibody (pAb) Rabbit Anti -Human/Mouse IKK Complex Associated Protein (IKBKAP) Instruction Manual Catalog Number PK-AB718-2337 Synonyms IKAP Antibody: IKK complex-associated protein, IKBKAP Description IKAP was initially identified as a scaffold protein of the I κB kinase complex that could bind to IKK α, IKK β, NF-κB, and the NF-κB-inducing kinase (NIK), although later evidence has cast doubt on this. More recent reports show that mutations in IKAP such as a frameshift leading to a truncated protein or a missense mutation that leads to defective phosphorylation are responsible for the autosomal recessive genetic disease familial dysautonomia (FD). Reports indicating that it forms part of the RNA polymerase II transcription elongation complex suggest that this disease may be due to compromised transcription elongation. More recently, it was shown that IKAP associates with c-Jun N-terminal kinase (JNK) and could specifically enhance JNK activation induced by the upstream JNK activators MEKK1 and ASK1, indicating another possible cause for FD. At least two isoforms of IKAP are known two exist. Quantity 100 µg Source / Host Rabbit Immunogen IKAP antibody was raised against a 16 amino acid peptide from near the carboxy terminus of human IKAP. Purification Method Affinity chromatography purified via peptide column. Clone / IgG Subtype Polyclonal antibody Species Reactivity Human, Mouse Specificity Formulation Antibody is supplied in PBS containing 0.02% sodium azide. Reconstitution During shipment, small volumes of antibody will occasionally become entrapped in the seal of the product vial. For products with volumes of 200 μl or less, we recommend gently tapping the vial on a hard surface or briefly centrifuging the vial in a tabletop centrifuge to dislodge any liquid in the container’s cap.
    [Show full text]
  • Prior Authorization Codes for Potential PAS Auto Approval
    Prior Authorization Codes for Potential PAS Auto Approval Procedure Code Description 81120 IDH1 (isocitrate dehydrogenase 1 [NADP+], soluble) (e.g., glioma), common variants (e.g., R132H, R132C) 81121 IDH2 (isocitrate dehydrogenase 2 [NADP+], mitochondrial) (e.g., glioma), common variants (e.g., R140W, R172M) 81161 DMD (dystrophin) (e.g., Duchenne/Becker muscular dystrophy) deletion analysis, and duplication analysis, if performed 81162 BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (e.g., hereditary breast and ovarian cancer) gene analysis; full sequence analysis and full duplication/deletion analysis (i.e., detection of large gene rearrangements) 81170 ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) (e.g., acquired imatinib tyrosine kinase inhibitor resistance), gene analysis, variants in the kinase domain 81175 ASXL1 (additional sex combs like 1, transcriptional regulator) (e.g., myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia) gene analysis; full gene sequence 81176 ASXL1 (additional sex combs like 1, transcriptional regulator) (e.g., myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia) gene analysis; targeted sequence analysis (e.g., exon 12) 81200 ASPA (aspartoacylase) (e.g., Canavan disease) gene analysis, common variants (e.g., E285A, Y231X) (ASPA genetic analysis, CANW, or Canavan disease mutation analysis) 81201 APC (adenomatous polyposis coli) (e.g., familial adenomatous polyposis [FAP], attenuated FAP) gene analysis;
    [Show full text]
  • Cdk2 Catalytic Activity Is Essential for Meiotic Cell Division in Vivo
    Biochemical Journal (2016) 473 2783–2798 DOI: 10.1042/BCJ20160607 Research Article Cdk2 catalytic activity is essential for meiotic cell division in vivo Sangeeta Chauhan1, M. Kasim Diril1,*, Joanna H.S. Lee1, Xavier Bisteau1, Vanessa Manoharan1, Deepak Adhikari2,†, Chandrahas Koumar Ratnacaram1, Baptiste Janela3, Juliane Noffke1, Florent Ginhoux3, Vincenzo Coppola4,‡, Kui Liu2, Lino Tessarollo4 and Philipp Kaldis1,5 Downloaded from https://portlandpress.com/biochemj/article-pdf/473/18/2783/687877/bcj-2016-0607.pdf by Monash University user on 10 October 2019 1A*STAR (Agency for Science, Technology and Research), Institute of Molecular and Cell Biology (IMCB), 61 Biopolis Drive, Proteos#3-09, Singapore 138673; 2Department of Chemistry and Molecular Biology, University of Gothenburg, SE-405 30 Gothenburg, Sweden; 3A*STAR (Agency for Science, Technology and Research), Singapore Immunology Network (SIgN), 8A Biomedical Grove, Immunos, Singapore 138648; 4National Cancer Institute, Mouse Cancer Genetics Program, NCI-Frederick, Bldg. 560, 1050 Boyles Street, Frederick, MA 21702-1201, USA; and 5Department of Biochemistry, National University of Singapore (NUS), Singapore 117597 Correspondence: Philipp Kaldis ([email protected]) Cyclin-dependent kinases (Cdks) control the eukaryotic cell cycle by phosphorylating serine and threonine residues in key regulatory proteins, but some Cdk family members may exert kinase-independent functions that cannot easily be assessed using gene knockout approaches. While Cdk2-deficient mice display near-normal mitotic cell prolifer- ation due to the compensatory activities of Cdk1 and Cdk4, they are unable to undergo meiotic generation of gametes and are consequently sterile. To investigate whether Cdk2 regulates meiosis via protein phosphorylation or by alternative kinase-independent mechanisms, we generated two different knockin mouse strains in which Cdk2 point mutations ablated enzyme activity without altering protein expression levels.
    [Show full text]