Upload File

l x p g l 300 - genedx · ssr4 stambp stat1 stxbp1 sumf1 surf1 syne1 taco1 page 1 l x p g l 300 ote...

  • Home
  • Documents
  • L X P G L 300 - GeneDx · SSR4 STAMBP STAT1 STXBP1 SUMF1 SURF1 SYNE1 TACO1 Page 1 L X P G L 300 ote anded anel gene lists are regularly udated/imroved. This list should be considered
2
Leukodystrophy Xpanded Panel Gene List (~300 genes) Note: Xpanded panel gene lists are regularly updated/improved. This list should be considered an approximation only as the gene list is subject to change at any time. The patient’s test report includes a list of genes evaluated and includes a coverage parameter for each gene. AARS AARS2 ABAT ABCA1 ABCD1 ACADS ACER3 ACOX1 ACY1 ADAR ADGRG1 ADSL AHDC1 AIMP1 ALDH3A2 ALDH6A1 AMN AMPD2 ANK3 AP4B1 AP4S1 APOPT1 ARHGAP31 ARHGEF10 ARNT2 ARSA ASNS ASPA ASXL1 AUH BCAP31 BCS1L BEST1 BMP4 BRAT1 CARS2 CCDC88A CHMP2B CLCN2 CLN6 CLP1 COL4A1 COL4A2 COX10 COX15 COX7B CPLX1 CSF1R CTBP1 CTC1 CTDP1 CYP27A1 CYP7B1 D2HGDH DAG1 DARS DARS2 DDHD2 DEAF1 DHFR DHH DLL4 DNM2 DOCK6 DPYS DYRK1A EARS2 EDNRB EGR2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ENTPD1 EOGT EPG5 ERCC2 ERCC3 ERCC6 ERCC8 FA2H FAM126A FBXL4 FGD4 FGFRL1 FIG4 FKRP FOXC1 FOXG1 FOXRED1 GAA GALC GAN GBE1 GCDH GDAP1 GFAP GFM1 GJA1 GJB1 GJC2 GLB1 GLUL GLYCTK GNAO1 GRM7 GRN HEPACAM HEXA HIKESHI HK1 HSD17B4 HSPD1 HTRA1 IBA57 IDUA IER3IP1 IFIH1 ISCA2 ITPA KARS KCNJ10 KCNT1 L2HGDH LAMA1 LAMA2 LAMB1 LARGE1 LETM1 LIPT1 LITAF LMNB1 LRPPRC LYRM7 MAPT MARS2 MAT1A MCOLN1 MEF2C MLC1 MOCS1 MOCS2 MPV17 MPZ MRPS22 MTFMT MTTP MUT NADK2 NAXE NDRG1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NDUFV3 NEFL NFU1 NGLY1 NOTCH1 NOTCH3 NRXN1 NSD2 NUBPL OCRL PAFAH1B1 PC PCDH12 PDYN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PHGDH PHYH PIGA PLEKHG2 PLP1 PMP22 POLG POLR1C POLR3A POLR3B POMK POMT1 PPP2R1A PRKDC PRPS1 PRX PSAP PSEN1 PTEN PURA PYCR2 QARS RARS RBPJ RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF216 RPIA RPS6KC1 SAMHD1 SBF2 SCP2 SDHA SDHAF1 SDHB SDHD SEPSECS SH3TC2 SHANK3 SHPK SLC16A2 SLC17A5 SLC1A4 SLC25A1 SLC25A12 SLC25A22 SLC33A1 SLC35A2 SLC46A1 SLC6A8 SNIP1 SOX10 SPATA5 SPG11 SPG20 SPTAN1 SQSTM1 SSR4 STAMBP STAT1 STXBP1 SUMF1 SURF1 SYNE1 TACO1 Page 1

Upload: others

Post on 12-Oct-2020

0 views

Category:

Documents


0 download

Report

TRANSCRIPT

Page 1: L X P G L 300 - GeneDx · SSR4 STAMBP STAT1 STXBP1 SUMF1 SURF1 SYNE1 TACO1 Page 1 L X P G L 300 ote anded anel gene lists are regularly udated/imroved. This list should be considered

Leukodystrophy Xpanded Panel Gene List (~300 genes)

Note: Xpanded panel gene lists are regularly updated/improved. This list should be considered an approximation only as the gene list is subject to change at any time. The patient’s test report includes a list of genes evaluated and includes a coverage parameter for each gene.

AARS AARS2 ABAT ABCA1 ABCD1 ACADS ACER3 ACOX1

ACY1 ADAR ADGRG1 ADSL AHDC1 AIMP1 ALDH3A2 ALDH6A1

AMN AMPD2 ANK3 AP4B1 AP4S1 APOPT1 ARHGAP31 ARHGEF10

ARNT2 ARSA ASNS ASPA ASXL1 AUH BCAP31 BCS1L

BEST1 BMP4 BRAT1 CARS2 CCDC88A CHMP2B CLCN2 CLN6

CLP1 COL4A1 COL4A2 COX10 COX15 COX7B CPLX1 CSF1R

CTBP1 CTC1 CTDP1 CYP27A1 CYP7B1 D2HGDH DAG1 DARS

DARS2 DDHD2 DEAF1 DHFR DHH DLL4 DNM2 DOCK6

DPYS DYRK1A EARS2 EDNRB EGR2 EIF2B1 EIF2B2 EIF2B3

EIF2B4 EIF2B5 ENTPD1 EOGT EPG5 ERCC2 ERCC3 ERCC6

ERCC8 FA2H FAM126A FBXL4 FGD4 FGFRL1 FIG4 FKRP

FOXC1 FOXG1 FOXRED1 GAA GALC GAN GBE1 GCDH

GDAP1 GFAP GFM1 GJA1 GJB1 GJC2 GLB1 GLUL

GLYCTK GNAO1 GRM7 GRN HEPACAM HEXA HIKESHI HK1

HSD17B4 HSPD1 HTRA1 IBA57 IDUA IER3IP1 IFIH1 ISCA2

ITPA KARS KCNJ10 KCNT1 L2HGDH LAMA1 LAMA2 LAMB1

LARGE1 LETM1 LIPT1 LITAF LMNB1 LRPPRC LYRM7 MAPT

MARS2 MAT1A MCOLN1 MEF2C MLC1 MOCS1 MOCS2 MPV17

MPZ MRPS22 MTFMT MTTP MUT NADK2 NAXE NDRG1

NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2

NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2

NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NDUFV3

NEFL NFU1 NGLY1 NOTCH1 NOTCH3 NRXN1 NSD2 NUBPL

OCRL PAFAH1B1 PC PCDH12 PDYN PEX1 PEX10 PEX11B

PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3

PEX5 PEX6 PEX7 PGAP1 PHGDH PHYH PIGA PLEKHG2

PLP1 PMP22 POLG POLR1C POLR3A POLR3B POMK POMT1

PPP2R1A PRKDC PRPS1 PRX PSAP PSEN1 PTEN PURA

PYCR2 QARS RARS RBPJ RMND1 RNASEH2A RNASEH2B RNASEH2C

RNASET2 RNF216 RPIA RPS6KC1 SAMHD1 SBF2 SCP2 SDHA

SDHAF1 SDHB SDHD SEPSECS SH3TC2 SHANK3 SHPK SLC16A2

SLC17A5 SLC1A4 SLC25A1 SLC25A12 SLC25A22 SLC33A1 SLC35A2 SLC46A1

SLC6A8 SNIP1 SOX10 SPATA5 SPG11 SPG20 SPTAN1 SQSTM1

SSR4 STAMBP STAT1 STXBP1 SUMF1 SURF1 SYNE1 TACO1

Page 1

Page 2: L X P G L 300 - GeneDx · SSR4 STAMBP STAT1 STXBP1 SUMF1 SURF1 SYNE1 TACO1 Page 1 L X P G L 300 ote anded anel gene lists are regularly udated/imroved. This list should be considered

Leukodystrophy Xpanded Panel Gene List (~300 genes)

Note: Xpanded panel gene lists are regularly updated/improved. This list should be considered an approximation only as the gene list is subject to change at any time. The patient’s test report includes a list of genes evaluated and includes a coverage parameter for each gene.

TAF2 TARS2 TM4SF20 TMEM126B TMEM165 TMEM187 TMEM70 TRAPPC9

TREM2 TREX1 TRMT10A TRMT5 TSC1 TSEN54 TUBB2A TUBB4A

TUFM TYMP TYROBP UBE2A UPB1 VARS2 VCP VPS11

WWOX ZEB2 ZFYVE26 ZNF335

© 2018 GeneDx, Inc. All rights reserved. 40374 V2 03/18 Information current as of 03/18

207 Perry Parkway

Gaithersburg, MD 20877

T 1 888 729 1206 (Toll-free), 1 301 519 2100 • F 1 201 421 2010

E [email protected] • www.genedx.com


%UDFNHWV [CT] High School 106content.ciacsports.com/pdfs/wrestling_open_info_2020.pdf[L1]James Lunt Xavier - Gr12 L L L L L L L L L L L L L L L L L L L L L L L L &,$&6WDWH2SHQ3UHOLPLQDU\%UDFNHWV

l l l l l l l l l l l l l l l l l l l l l l l l l l l l l ... · Broncos playing away IsraelFolau ByTRISTANSWANWICK andDANIELBOURCHIER BRISBANE Broncos players have made the most

Coresets for the Nearest-Neighbor Rule...A.Flores-VelazcoandD.M.Mount 47:3 (a)Trainingset(104 pts). l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l

ntnews.com.aul l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l ...€¦ ·  · 2013-09-14environment. Delivering service with care Phone: (08) ... Adrian

Imroved Resolution in Infrared Imaging Using Randomly ...cris/Documents/Luengo1998.pdf · Infrared Imaging Using Randomly Shifted Images Graduation Report Author: C. L. Luengo Hendriks

ntnews.com.aul l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l …...outrage after announcing it would no longer manufac-ture cars here from 2017, cut-ting 2900 jobs

ntnews.com.aul l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l ... · 2018-04-11 · Catch the eye of voters in ... communicate your message to over 70,000*

Molecular Analysis of SUMF1 Mutations: Stability …onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004/...Molecular Analysis of SUMF1 Mutations in Multiple Sulfatase Deficiency

Volvo FE, Specificaties: Chassis · 2020. 8. 4. · 3900 l l l 4100 l l 4200 l 4300 l l 4500 l l l 4750 l l 5000 l l l 5250 l l 5500 l l l 5800 l l 6100 l l 6450 l l 6800 l BRANDSTOFTANKS

BATEMAN 010 DIAMOND DRILLING TOWNSHIP: BATEMAN … · PURE GOLD RESOURCES LTD. 020 J l l l l l l ASSeSSMENT fJL- l RECEIVED y. l l l l l l l l l l l l l l l l Eugene Flood l l l DIAMOND

 · 2015. 2. 2. · on fook building hoi shuen building wip nov 2012 l l h l l l l h l l l l h l l l l l l l l hl l l l l l lh h l l l l l h l l l h l l l h l l l l l l h l l l l

Protect - Blue Ribbon Home Warranty...Maintenance Plan 3 Items From Additional Items Menu l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l ... garbage

l l l l l l l l l l l l l l l l l l l l l l l l l l l l l ... · In the final analysis, you’re responsible for your own safety and wellbeing. By all means, carry an EPI RB and a

ntnews.com.aul l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l …...c Endless options for redevelopment (STCA), potential up to 90 metres height limit c The subject

Common Issues and Solutions in Regression Modeling (Mixed ... · S l l l l l l l l l l T1 l l l ll l l ll ll l T2 l l l l l l l l l l l V l l ll ll l W1 6.0 6.5 7.0 7.5 l l l l l

TENDER NO: YEDF/004/2017-2018 PROVISION OF IMROVED …

NEW MACHINABILITY ENHANCER FOR IMROVED …...A common Fe-Cu-C material system (MPIF material code: FC-0208) with and without machining additive was selected for evaluations 14. Commercial

n3!ne Ki5n5SK CC SeJ eA!n SKi!ds!K !iS. b!Ki5SKe! - Paradisi.pdf · l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l

ntnews.com.aul l l l l l l l l l l l l l l l l l l l l l l l l l l l l ... · tied the knot at a church in the English countryside at the weekend in front of a small gathering of

l l l l l l l l l l l l l l l l l l l l l l l l l l l l l ... · goodbye to Nelson Mandela in what will be the funeral of the century. But Mr Mandela’s body will not be at the memorial

NEWS l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l ... · 2020-05-29 · 15m x 12mm. Perma Fit ... Marigolds $250 100mm pot. 3582198 $395 25L All

NATION l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l ... · 2019-08-14 · MELBOURNE: Underworld figure and businessman Mick Gatto has been probed

 · l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l & = & =? =? = & =? = & =? = & = & = & =? =? = Ï|| Ï|| # ÏÏ||! # ÏÏ Ï b Ï ÏÏÏ

MCS ACSD 2008 - Fagor Automation · 2017. 3. 17. · l l l l l l l l l l l l l l l l l l l l l l l l l l l l g h g i g b g l l l l l l l l l l l l l l l l l l ? ) @ & & & & !" ?)

ntnews.com.aul l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l ... · 2013. 3. 25. · day last week in yacht Clare de Lune along with its owner Paul Butler

l l l l l l l l l l l l l l l l l l l l l l l l l l l l l ... · in Affordable Prices 1007185 Quality homes at the right price! PAUL 0418 892 641 | 9 Custom design 9 Ground & elevated

NEWSl l l l l l l l l l l l l l l l l l l l l l l l l l l ... · No layby. Ultrabook, Celeron, Celeron Inside, Core Inside, Intel, Intel Logo, Intel ... BEAT THE QUEUE! ... TOSHIBA

School of Arts and Sciences | School of Arts and Sciences - …jesusfv/Lecture_HPC_11... · 2019-11-19 · Numberoftransistors l l l l l l l l ll l l l l l l l l l l l l l l l l l

Answers to the IB French B Course Companion - QuiaIB French B Course Companion Answers 2 l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l 13 A 14 a tenez b vous sentiez

2015 All Utils City Hall - Home | City of CourtenayNews/Map 7.pdf · 2017. 2. 18. · l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l

Lansing City, East Lansing City, and Lansing Charter Township … · 2019. 11. 14. · l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l

ntnews.com.aul l l l l l l l l l l l l l l l l l l l l l l l l l l l l ... · interim ban on synthetic drugs announced after the death of a Sydney teenager. The agreement to extend

Horrificsceneascar mowsdowntourists file Tuesday, August 6, 2013. NTNEWS. 17 PUB: NTNE-WS-TE:6-AGE:17LO-R:KMDA-C-Y-CO-l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l

ntnews.com.aul l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l l …...The latest 2013 Hays Salary Guide outlines salary and recruiting trends for more than 1000 roles

Words by John Eichelsheim Photos by Will Calver Alloy XP676HTO 0514 lo res.pdf · subscribe online at 65 imroved stability at rest and has welded ...100mm wider at the chines for