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Appendix: genetic testing laboratories and support groups

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Although concentrated in Australia, Europe, Japan and Northern America, facilities performing genetic testing for hereditary neuropathies exist vir- tually worldwide. So do support groups.

In the tables listing the facilities, mere laboratories without clinical facil- ities, on the one hand, are differentiated from clinical departments running their own laboratories, on the other hand. This determination seems rea- sonable because the latter combine clinical as well as genetic engineering knowledge. Therefore, both groups might be contacted for different rea- sons.

With regard to support groups, many people worldwide address them- selves to the aim of providing information and help to affected persons.

Sometimes they are organized in large societies with their own homepages and sometimes they only form local networks. In either case the available information is listed. Evidently, support groups for hereditary neuropathies do not exist in every country. Alternatively, if available, information about neuromuscular support groups is given.

All available and necessary information for the contact of the particular facility or support group is listed in the tables. The institutions are ar- ranged alphabetically by country. The tables provide the name and postal address of the institution as well as a contact person, their homepage and potentially an overview of the feasible genetic testing.

To obtain the depicted information, clinical departments and laboratories were contacted throughout the world. Nevertheless, it is obviously impossi- ble to give a complete worldwide overview. In case of countries with var- ious testing facilities, the ones with the broadest range of genes were cho- sen.All websites and e-mail addresses were fully functional at the time of manuscript writing. However, due to the fast changing internet some of them might change. If so entering the name of the institution into a search engine should supply the up-to-date information.

z Table 1 lists clinical departments performing genetic testing.

z Table 2 displays laboratories performing genetic testing.

z Table 3 provides information about support groups.

genetic testing laboratories and support groups

G. Hçnermund

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Table1.Clinicaldepartmentsperforminggenetictestingforhereditaryneuropathies CountryInstitutionandpostaladdressDirector,contactperson(s),website(http://...),remarksTestedgenes zCanadaAlbertaChildren'sHospital, MolecularDiagnosticLaboratory,Calgary, Alberta,Canada Director:PeterBridge,PhD,FCCMG,FACMG Contact:E-mail:[email protected] Phone:(+403)±943-7026,Fax:(+403)±943-7624 Website:www.fp.ucalgary.ca/medicalgenetics

GJB1,MPZ, PMP22-Del, PMP22-Dup Children'sHospitalofEasternOntario, MolecularGeneticsDiagnosticLaboratory, Ottawa,Ontario,Canada

Director:NancyCarson,PhD,FCCMG,E-mail:[email protected] Phone:(+613)±737-7600ext3282,Fax:(+613)±738-4822 Website:www.cheori.org/html/molecular.html

PMP22-Del, PMP22-Dup HospitalforSickChildren,Molecular GeneticsLaboratory,Toronto,Ontario, Canada

Co-Directors:PeterNRay,PhD;TracyLStockley,PhD Contact:LeslieSteele,MSc,E-mail:[email protected] Phone:(+416)±813-6590,Fax:(+416)±813-7732 Website:www.sickkids.ca/molecular

IKBKAP zCroatiaDepartmentofPediatrics,ZagrebUniversity HospitalCenter,Kispaticeva12, 10000Zagreb,Croatia

Contact:NinaBarisic,MD E-mail:[email protected] given zFranceHÖpitalPiti-Salpžtri re,INSERMU289,47, Bddel'HÖpital,75651ParisCedex13, France Contact:EricLeGuern,MD E-mail:[email protected] Website:www.ap-hop-paris.fr/hopitaux/pitie_salpetriere.htm

Informationnot given zGermanyDepartmentofNeurology,University Hospital,UniversityofMçnster,Albert- Schweitzer-Str.33,48149Mçnster, Germany

Director:BerndRingelstein,MD,Prof. Co-Contact:GregorKuhlenbåumer,MD,E-mail:gkuhlen@uni- muenster.de Phone:(+49)±251-83-48197/-48196,Fax:(+49)±251-83-48181 Website:neurologie.uni-muenster.de Remark:Furthergenesonresearchbase EGR2,GAN, GJB1,MPZ, PMP22-Del, PMP22-Dup

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DepartmentofNeurology,Neurobiolo- gischesLabor,UniversityofRostock, GehlsheimerStraûe20,18147Rostock, Germany Director:ReinerBenecke,MD,Prof. Contact:ArndtRolfs,MD,Prof.,E-mail:[email protected] rostock.de Phone:(+49)±381494-9514,Fax:(+49)381494-9512 Website:neurologie.med.uni-rostock.de/index.html

EGR2,GJB1, MPZ,PMP22- Del,PMP22-Dup zGreeceNeurogeneticUnit,DepartmentofNeurol- ogy,AthensNationalUniversity,Eginition Hospital,74Vs.SophiasAv.,11528Athens, Greece

Director:DemetrisVassilopoulos,MD,Prof. Contact:MariosPanas,MD,E-mail:[email protected] Phone:(+30)±010/7289289,Fax:(+30)±010/7289289 Website:www.uoa.gr/uoauk/uoaindex.htm

Cx32,PMP22- Del,PMP22-Dup zIsraelRabinMedicalCenter,MolecularGenetics, PetahTikva,IsraelDirector:MordechaiShohat,MD Co-Contact:InbalKedar,MSc,E-mail:[email protected] Co-Contact:EllenTaub,MSc,E-mail:[email protected] Phone:(+972)±3-937-7659,Fax:(+972)±3-937-7660 Website:www.clalit.org.il/rabin/Content/Content.asp? CID=185&u=576

IKBKAP WolfsonMedicalCenter,MolecularGenetics Laboratory,62HalohamimTelGiborim, Holon,Israel

Director:EstherLeshinsky-Silver,PhD E-mail:[email protected] Phone:(+972)±3-5028692,Fax:(+972)±3-5028693

IKBKAP zJapanDepartmentofNeurology,NagoyaUniver- sity,GraduateSchoolofMedicine, 65Tsurumai,Showa,Nagoya466-8550, Japan

Contact:GenSobue,MD,PhD E-mail:[email protected] Phone:(+81)52-744-2385,Fax:(+81)52-744-2384 Website:www.med.nagoya-u.ac.jp/uc.html Cx32,MPZ, PMP22-Del, PMP22-Dup

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Table1(continued) CountryInstitutionandpostaladdressDirector,contactperson(s),website(http://...),remarksTestedgenes DepartmentofNeurology,Facultyof Medicine,TottoriUniversity, 36-1Nishimachi,Yonago,Tottori683-8504, Japan

Co-Contact:SaikoKurihara,PhD,E-mail:[email protected]

u.ac.jp Co-C

ontact:YoshiAdachi,PhD,E-mail:[email protected]

u.ac.jp Phone:

(+81)±859348032,Fax:(+81)±859348083 Website:neurol.med.tottori-u.ac.jp

MPZ,PMP22- Del,PMP22-Dup DepartmentofPediatrics,Yamagata UniversitySchoolofMedicine,Yamagata, Japan

Contact:KiyoshiHayasaka,MD E-mail:[email protected] given DepartmentofNeurologyandGerontology, KyotoPrefecturalUniversityofMedicine, KawaramachiHirokoji,Kamikyo-ku, Kyoto602,Japan Director:MasanoriNakagawa,MD,Prof. E-mail:[email protected] Phone:(+81)±75-251-5793,Fax:(+81)±75-211-8645 Website:www2.kpu_m.ac.jp/~neurolog

GJB1,MPZ, PMP22(se- quenceanalysis only) zPolandNeuromuscularUnit,MedicalResearch Centre,Banacha1a,02-098,Warsaw, Poland

Contact:AndrzejKochaskiMD,PhD,E-mail:[email protected] Phone/Fax:(+48)±226584501 Website:www.cmdik.pan.pl/index_eng.html

Cx32,MPZ, PMP22-Del, PMP22-Dup zSpainInstitutdeGen ticaM dicaiMolecular (IGEM),HospitalNISAVirgendelConsuelo, C/Callosad'Ensarri—,12,46007Valencia, Spain

Director:FrancescPalau,MD,PhD Co-Contact:JavierGarcia-Planells,MSc,E-mail:[email protected] Co-Contact:AnaCuestaPeredo,E-mail:[email protected] Phone:(+34)±96-317-7821,Fax:(+34)±96-317-7870 Website:www.igem.es

GJB1,MPZ, NGDR1,PMP22- Dup,PMP22-Del HospitalSantJoandeDeu MolecularGenetics,Esplugues(Barcelona), Spain

Director:AureaMira,MsC,PhD Contact:EugeniaMonros,MsC,PhD,E-mail:[email protected] Phone:(+34)±93-253-2103,Fax:(+34)±93-280-3626 Website:www.hsjdbcn.org/index.html PMP22-Del, PMP22-Dup

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zSwitzerlandChildren'sUniversityHospitalG2/811, HumanMolecularGeneticsBern, Switzerland Director:SabinaGallati,PhD,Prof. E-mail:[email protected] Phone:(+4131)6329493/94,Fax:(+4131)6329484 Website:www.cx.unibe.ch/dkf2/Humangenet/humgenet1.htm

GJB1,MPZ, PMP22-Del, PMP22-Dup zUSAChildren'sHospitalLosAngeles,University Children'sGeneticLaboratory,LosAngeles, CA,USA

Director:ToniRPrezant,PhD Contact:WilliamJChilders,MT,E-mail:[email protected] Phone:(+1)323669-2271,Fax:(+1)323660-7072 Website:www.childrenshospitalla.org

IKBKAP HenryFordHospital,DNADiagnostic Laboratory,Detroit,MI,USADirector:KristinGMonaghan,PhD,FACMG, E-mail:[email protected] Phone:(+1)±313916-7681,Fax:(+1)±313916-9476 Website:www.henryfordhealth.org/1310.cfm

IKBKAP MountSinaiSchoolofMedicine GeneticTestingLaboratory(DNADivision), NewYork,NY,USA

Co-Directors:RuthKornreich,PhD,MargaretMMcGovern,MD,PhD Contact:JaneRobinowitz,MS,E-mail:[email protected] Phone:(+1)±212241-6947,Fax:(+1)±212860-3316 Website:www.mssm.edu IKBKAP PMP22-DupDuplicationorpointmutationscreeningforPMP22 PMP22-DelDeletionscreeningforPMP22

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Table2.Laboratorieswithoutclinicaldepartmentsperforminggenetictestingforhereditaryneuropathies CountryInstitutionandPostalAddressDirector,ContactPersons,Website(http://...)TestedGenes zArgentinaGENDA,CiudadautonomadeBuenosAires, ArgentinaCo-Director:VivianaBernath,PhD,E-mail:[email protected] Phone:(+54)±11-4780-4800,Fax:(+54)±11-4780-4800 Co-Director:MarianaHerrera,PhD,E-mail:[email protected] Phone:(+54)±11-4780-4800,Fax:(+54)±11-4780-4800 Website:www.genda.com.ar

PMP22-Dup zAustraliaEdithCowanUniversity,CentreforHuman GeneticsPerth,AustraliaCo-Director:LubaKalaydjieva,MD,PhD E-mail:[email protected] Phone:(+61)±8-9400-5684,Fax:(+61)±8-9400-5851 Co-Director:TamaraRogers,PhD,E-mail:[email protected] Phone:(+61)±8-9400-5107,Fax:(+61)±8-9400-5851 Website:www.chg.ecu.edu.au/home.html

CMT4B2,EGR2, GDAP1,MTMR2, NDRG1,PRX (Researchtest- ingforMTMR13, SBF2) WesternAustralianInstituteforMedical Research,TheUniversityofWestern Australia,ªBºBlockQEIIMedicalCentre, HospitalAvenue,NedlandsWA6008, Australia

Contact:LubaKalaydjieva,E-mail:[email protected] Website:www.uwa.edu.auInformationnot given zAustriaDepartmentofMedicalBiologyandHuman Genetics,Karl-Franzens-UniversitåtGraz, Harrachgasse21/8,8010Graz,Austria

Director:KlausWagner,MD,Prof. Contacts:MichaelaAuer-Grumbach,MD E-mail:[email protected] KlausWagner,MD,Prof.,PeterKroisel,MD,Prof., HanneloreZierler,MD,Prof. Phone.:(+43)±316-380-4111,Fax:(+43)±380-9605 Website:www.kfunigraz.ac.at/imhwww DCTN1,EGR2, GARS,GDAP1, GARS,GJB1,

IGHMBP2, IKBKAP

,KIF1B, LITAF/SIMPLE, LMNA,MPZ, NEFL,NDRG1, NTRK1,PMP22, PRX,RAB7, SBF2,SPTLC1

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DepartmentofMedicalBiologyandHuman Genetics,Leopold-Franzens-Universityof Innsbruck,Schæpfstr.41,6020Innsbruck, Austria Director:GerdUtermann,MD,Prof., E-mail:[email protected] Phone:(+43)±512507-3451,Fax:(+43)±512507-2861 Co-contact:AndreasJanecke,MD,E-mail: [email protected] Phone:(+43)±512507-3469,Fax:(+43)±512-507-2861 Website:info.uibk.ac.at/c/c5/c503/medbiolneu/index.html

EGR2,GJB1, MPZ,PMP22- Dup zBelgiumMolecularGeneticsDepartment(VIB8), UniversityofAntwerp, Universiteitsplein1,2610Antwerpen, Belgium

Director:ChristineVanBroeckhoven,PhD,Prof. Contact:PeterDeJonghe,MD,PhD,Prof. E-mail:[email protected] Phone:(+32)±3-8202499,Fax:(+32)±3-8202541 Website:molgen-www.uia.ac.be

EGR2,GJB1, MPZ,PMP22- Del,PMP22-Dup, (furthergenes onresearch base) GenetiqueMoleculaire,BatB23+3p20, CHUSartTilman,4000Liege,BelgiumCo-Contact:VincianeDideberg,MD E-mail:[email protected] Co-Contact:KarinSegersMDV,PhD, E-mail:[email protected] Phone:(+32)±43662478,Fax:(+32)±43662281 Website:http://www.chuliege.be

PMP22-Del, PMP22-Dup zCanadaHealthSciencesCentre,Molecular DiagnosticLaboratory,Winnipeg,Manitoba, Canada

Director:ElizabethLSpriggs,PhD,FCCMG Contact:MargaretGibb,E-mail:[email protected] Phone:(+1)±204787-1024,Fax:(+1)±204787-3846 Website:www.hsc.mb.ca/corporate PMP22-Del, PMP22-Dup

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Table2(continued) CountryInstitutionandPostalAddressDirector,ContactPersons,Website(http://...)TestedGenes LondonHealthSciencesCentre,Molecular DiagnosticLaboratory,London,Ontario, Canada Director:PeterJAinsworth,BSc,PhD,MBChB,FRCPC E-mail:[email protected] Co-Contact:JAlanStuart,BSc,CMLTO, E-mail:[email protected] Phone:(+1)±519685-8122,Fax:(+1)±519685-8279 Website:www.lhsc.on.ca

GJB1,SPTLC1 QuestDiagnostics,Inc.,NicholsInstitute, SanJuanCapistrano,CanadaDirector:CharlesStrom,MD,PhD Contact:JoyBRedman,MS, E-mail:[email protected] Phones:(+1)±949728-4279,(800)642-4657/-4279 Fax:(949)728-4874,Website:www.questdiagnostics.com

IKBKAP zCroatiaClinicalInstituteofLaboratoryDiagnosis, ZagrebUniversitySchoolofMedicineand ClinicalHospitalCenter,Croatia

Director:Grskovic,MD,Prof.,E-mail:[email protected] given zCyprusCyprusInstituteofNeurologyandGenetics, MolecularGeneticsDepartment,Nicosia, Cyprus Director:KyproulaChristodoulou,BSc,MSc,PhD E-mail:[email protected] Phone:(+357)±2-392649,Fax:(+357)±2-358238 Website.www.cing.ac.cy

GJB1,MPZ, PMP22-Del, PMP22-Dup zCzechRepublic2ndSchoolofMedicine,CharlesUniversity, DNALaboratory,Praha5,CzechRepublicDirector:PavelSeeman,MD;E-mail:[email protected] Phone:(+42)±02-2443-3300-2,Fax:(+42)±02-2443-3322 Contact:RadimMazanec,MD; E-mail:[email protected] Phone:(+42)±02-2443-6866 Website:camelot.lf2.cuni.cz/funkovai/ublg/english.html GJB1,PMP22- Del,PMP22-Dup

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zDenmarkDepartmentofHumanGenetics,The BartholinBuilding,UniversityofAarhus, 8000AarhusC,Denmark Director:AndersBùrglum,MD,PhD,Prof. E-mail:[email protected] Phone:(+45)±89421676,Fax:(+45)±86123173 Website:www.humgen.au.dk

Informationnot given zFranceSaintJosephUniversity,MedicalGenetics Unit,Paris,FranceDirector:AndreMegarbane,MD,PhD Contact:ValerieDelague,PhD,E-mail:[email protected] Phone:(+961)1-614046,Fax:(+961)1-614054 Website:http://www.usj.edu.lb

EGR2,GDAP1, MTMR2,NDRG1, PMP22-Dup, PRX(further geneson researchbase) zGermanyRuhrUniversity,HumanGenetics,Bochum, GermanyDirector:JoergThomasEpplen,MD,Prof. Contact:WolframKlein,MD,E-mail:[email protected] Phone:(+49)±234-32-25764,Fax:(+49)±234-32-14196 Website:www.ruhr-uni-bochum.de/mhg

EGR2,GJB1, MPZ,PMP22- Del,PMP22-Dup InstituteofHumanGenetics,Universitåtskli- nikumBonn,Wilhelmstr.31,53111Bonn, Germany

Director:PeterPropping,MD,Prof. Contact:BrunhildeWirth,PhD,Prof.,E-mail:[email protected] Phone:(+49)±0228-287-2344,Fax:(+49)±0228-287-2380 Website:www.meb.uni-bonn.de/humgen/institut.htm

GJB1,MPZ, PMP22-Dup InstituteofHumanGenetics,Friedrich- Alexander-University,Schwabachanlage10, 91054Erlangen,Germany

Director:Prof.Dr.med.AndrReis Contact:CorneliaKraus,MD, E-mail:[email protected] Phone:(+49)±9131-852-6587,Fax:(+49)±9131/209297 Co-Contact:BerndRautenstrauss,PhD, E-mail:[email protected] Phone:(+49)±9131-852-2352,Fax:(+49)±9131-209297 Website:www.humgenet.uni-erlangen.de/englisch/home.html EGR2,GJB1, MPZ,PMP22- Del,PMP22-Dup (furthergenes onresearch base)

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Table2(continued) CountryInstitutionandPostalAddressDirector,ContactPersons,Website(http://...)TestedGenes zItalyDepartmentofBiology,UniversityofPadua, U.BassiSt.58/B,35121Padova,ItalyDirector:A.Cassini,PhD,Prof.Informationnot given Dept.ofNeuroscience,Ophthalmologyand Genetics,SectionofMedicalGeneticsand ServiceofMedicalGenetics,c/oDIMI,Viale BenedettoXV,6,16132Genova,Italy Director:PaolaMandich,MD,Prof.,E-mail:[email protected] Co-Contact:EmilyBellone,MD,E-mail:[email protected] Phone:(+39)±01035378600/3537957, Fax:(+39)±0103538978 Website:en.unige.it

EGR2,GDAP1, GJB1,LITAF, MPZ,PMP22- Del,PMP22-Dup LaboratoriodiGeneticaUmana, DipartimentodiBiologia,Universita diPadova,Padova,Italy

Contact:E-mail:[email protected] given zKoreaSamsungMedicalCenter, DepartmentofLaboratoryMedicine, GeneticsLaboratory,Seoul135-710,Korea Co-Directors:SunHeeKim,MD,PhD,Jong-WonKim,MD,PhD Contact:Chang-SeokKi,MD,E-mail:[email protected] Phone:(+82)±2-3410-2709,Fax:(+82)±2-3410-2719 Website:www.genetics.or.kr

PMP22-Del, PMP22-Dup zLebanonMedicalGeneticsUnit Saint-JosephUniversity,Damasstreet, POBOX11-5076,RiadElSolh11072180, Beirut-Lebanon

Contact:AndrMgarban,MD,PhD,E-mail:[email protected] Phone:(+961)±1.614-046,Fax:(+961)±1-614.054 Website:www.usj.edu.lb

PMP22-Dup, PRX zNetherlandsAcademicMedicalCenter DNADiagnosticsLaboratoryAmsterdam, TheNetherlands

Director:MarcelMannens,PhD,E-mail:[email protected] Co-Contact:EgbertJ.W.Redeker,PhD Phone:(+31)±20-566-7899,Fax:(+31)±20-691-8626 Website:www.amc.nl/index.cfm?sid=1

IKBKAP zPolandNeuromuscularUnit,MedicalResearch Center,PolishAcademyofSciences,ul. Banacha1a,02-097Warsaw,Poland

Director:AndrzejKochan

Âski, MD,PhD, E-mail:[email protected] Fax:(+48)±226584501 Informationnot given

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zRussiaResearchCenterforMedicalGenetics,DNA DiagnosticsDepartment,Moscow,RussiaCo-Directors:AlexanderPolyakov,PhD,E-mail:[email protected] SvetlanaTverskaya,PhD,E-mail:[email protected] Phones:(+7)±095-727-9502,(+7)±095-504-3166

GJB1,PMP22- Dup zSpainLab.ªDr.F.Echevarneº DepartmentofGeneticsBarcelona,SpainDirector:JoseILao,MD,E-mail:[email protected] Phone:(+34)±93-496-4444,Fax:(+34)±93-215-4838 Website:www.echevarne.com

PMP22-Dup LaboratoryofGeneticsandMolecular Medicine,InstitutodeBiomedicina,CSIC, C/JaumeRoig,11,46010Valencia,Spain

Contact:FrancescPalau,MD,E-mail:[email protected] Co-Contact:CarmenEspinÕs,MD Phone:(+34)±96-339-3773,Fax:(+34)±96-369-0800 Website:http://www.csic.es

GDAP1 zSwitzerlandDepartmentofMedicalGenetics,University ofZurich,Schorenstr.16, 8603Schwerzenbach,Switzerland

Director:AlbertSchinzel,Prof.,MD, E-mail:[email protected] Phone:(+41)±16557051,Fax:(+41)±16557220 Website:www.medgen.unizh.ch

Informationnot given HumanMolecularGenetics, DepartmentofClinicalResearchandDe- partmentofPediatrics(G2,Lab811),Uni- versityofBern,Inselspital,3010Bern, Switzerland

Director:SabinaGallati,Prof.,PhD,E-mail:[email protected] Phone:(+41)±31-6329446,Fax:(+41)±31-6329484 Website:www.cx.unibe.ch/dkf2/Humangenet/MolHum.htm

Informationnot given zUnitedKingdomDepartmentofMolecularandCellBiology, UniversityofAberdeen,InstituteofMedical Sciences,Foresterhill,Aberdeen ScotlandAB252ZD,UK

Director:KevinDocherty,PhD,Prof.,E-mail:[email protected] Phone:(+44)±1224555872,Fax:(+44)±1224555844 Website:mcb1.ims.abdn.ac.uk/mcb.htm Informationnot given

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Table2(continued) CountryInstitutionandPostalAddressDirector,ContactPersons,Website(http://...)TestedGenes zUSAAthenaDiagnostics,Inc., ReferenceLab,Worcester,MA,USADirector:WilliamKSeltzer,PhD,FACMG Contact:KaraHoudeNg,MS, E-mail:[email protected] Phone:(+1)±508756-2886ext.3021,Fax:(+1)±508753-5601 Website:http://www.athenadiagnostics.com/site/content/index.asp

EGR2,GJB1, MPZ,NEFL, PMP22-Del, PMP22-Dup, PRX BaylorCollegeofMedicine,Kleberg CytogeneticsLaboratoryHouston, TX,USA

Director:SauW.Cheung,PhD Contacts:PatriciaRobbins-Furman,MPH,PatriciaAWard,MS, EricSSchmitt,MS,PhD E-mail:[email protected] Phones:(800)411-GENE,(+1)±713798-6555, Fax:(+1)±713798-6584 Website:www.imgen.bcm.tmc.edu/medgen/ klebergcytogenetics.htm

IKBKAP,PMP22- Del,PMP22-Dup BostonUniversitySchoolofMedicine, CenterforHumanGenetics,Boston, MA,USA

Director:AubreyMilunsky,MD,DSc Contact:MaureenFlynn,MS Phone:(+1)±617638-7083,Fax:(+1)±617638-7092, Website:www.bumc.bu.edu/Departments/HomeMain.asp? DepartmentID=118 IKBKAP,PMP22- Del,MPZ GenzymeGenetics, MolecularDiagnosticLaboratory, Westborough,MA

Co-Directors:DAlexaSirko-Osadsa,PhD,FACMG,ElizabethRohlfs, PhD,LynneRosenblum-Vos,PhD,StephanieHallam,PhD Contacts:JenniferDTeicher,MS,CGC,AmyMerrill,MS,CGC Phone:(1-800)255-7357,Fax:(+1)±508389-5549 Website:www.genzymegenetics.com

IKBKAP

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DukeUniversityMedicalCenter, CenterforHumanGenetics,Durham, NC,USA Director:JefferyMVance,MD,PhD Contact:JeffreyMarkStajich,PA-C, E-mail:[email protected] Phones:(800)283-4316opt8,then3,(+1)±919684-0622, Fax:(+1)±919684-0950 Website:wwwchg.mc.duke.edu

EGR2,GARS, GDAP1,KIF1B, MTMR2,NEFL, NDRG1,PRX, RAB7(Research testing:CMT4B2 (MTMR13|SBF2) NewYorkUniversityMedicalCenter, MolecularGeneticsLaboratoryNewYork, NY,USA

Director:HarryOstrer,MD Contact:ElsaReich,MS,E-mail:[email protected] Phone:(+1)±212263-6603,Fax:(+1)±212263-7590 Website:www.med.nyu.edu/genetics

IKBKAP UniversityofNebraskaMedicalCenter, HumanGeneticsLaboratory,Munroe-Meyer Institute,Omaha,NE,USA

Director:WarrenGSanger,PhD Contact:BhavanaJDave,PhD,E-mail:[email protected] Phone:(+1)±402559-9914,Fax:(+1)±402559-7248 Website:www.unmc.edu/services/geneticslab PMP22-Dup PMP22-DupDuplicationorpointmutationscreeningforPMP22 PMP22-DelDeletionscreeningforPMP22

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Table3.Supportorganizations,foundationsandInternetresources CountryInstitutionContact,Website(http://...) zInternationalCharcot-Marie-Tooth InternationalAddress:1SpringbankDr.,St.Catharines,Ontario,CanadaL2S2K1,Contact:LindaCrabtree Phone:(+61)±905-687-3630,Fax:(+61)±905-687-8753,E-mail:[email protected] Website:www.cmtint.org zAustraliaCharcot-Marie-Tooth AssociationAustralia Inc.(CMTAA)

Address:Building51,ConcordHospital,Concord2139NSW,Australia Phone:(+02)±97675105,Fax:(+02)±97675167,E-mail:[email protected] Website:e-bility.com/cmtaa/index.php zAustriaSteirischeGesellschaft fçrMuskelkrankeCo-Contact:Mag.SabineBayer,Address:Pomisgasse13/2,8010Graz,Austria Phone/Fax:(+43)±316814384,E-mail:[email protected] Co-Contact:ElkeTrummer,Mçhlgasse6,8330Feldbach,Austria Phone:(+43)±31522722,Fax:(+43)±3152434016,E-mail:[email protected] Website:www.krv.at/muskel zBelgiumCMT-BelgiumPresident:NellyCools,Address:QuintenMatsijslaan33,2280Grobbendonk,Belgium Phone:(+32)±14517944 Co-Contact:AlexanderLeysen,Address:Lievevrouwestraat27,2520Ranst,Belgium Phone:(+03)±4751271 Secretary:MariaSaey,Address:Bareldreef100,B2880Bornem,Belgium Phone/Fax:(+32)±38890399 zCanadaCharcot-Marie-ToothDiseaseAddress:132OntarioSt,Guelph,OntarioN1E3B4,Canada Phone:(+1)519-821-0300,Fax:(+1)519-821-1330,E-mail:[email protected] Charcot-Marie-ToothQuebecContact:ManonLabelle,Address:964,Dosquet,Longueuil,Quebec,J4L3V5,Canada Phone:(+1)±514679-8261 zDenmarkMuskelsvindfondenAddress:KongsvangAlle23,8000ârhusC,Denmark Phone:(+45)±89482222,Fax:(+45)±89482212,E-mail:[email protected] Website:www.muskelsvindfonden.dk

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