Knowing what to looK for Knowing where to looK and Knowing what it means

( we find what others don’t )

Molecular Cytogenetics:

One lab...all necessary technologies and expertise

GenomeDx:

• Whole-genomecytogeneticarrayCGHwithhigh-densitycoverage(customized105,000-probearray)

• Additionalprobedensityatsubtelomericandpericentromericregions,at>150lociforknownmicrodeletionmicroduplicationsyndromes,atlociassociatedwithautismspectrumdisorders(ASD),andontheentireXchromosome

• Allreportedresultsconfirmedwithanindependentmethod(FISH,qPCR,orMLPA)

• Ifinterpretationoftheproband’sresultsrequiresparentalanalysis,thistestingisperformedatnoadditionalcost

• AllcommercialinsuranceplansacceptedforGenomeDxanalysis

FISHonChipDx:

• EconomicalalternativetoexpensivesubtelomereFISHpaneltestingormultipleFISHstudies

• First-passgenomescanbeforehigh-resolution,whole-genomeanalysisbyGenomeDx

• Low-costtargetedarrayCGHanalysisof65lociassociatedwithcommonmicrodeletion/duplicationsyndromes(includingnewlydiscovereddisorders)andallsubtelomericandpericentromericregions

• 50-kbprobespacingattargetedgenomicregions

• AllpositiveresultsconfirmedbyFISH

• CostcomparabletoasingleFISHtest

FISH:

• ToverifyterminalorpericentromericrearrangementsdetectedbyGenomeDxwhole-genomearrayorFISHonChipDxtargetedarrayanalysis

• Todetectdeletionsorduplicationsassociatedwithcommongenomicdisorders

CopyDx:

• CustomquantitativePCRassayisusefulforconfirmingsmalldeletionsandduplicationsnotdetectablebyFISHprobesaswellasforanylocusintheentirenon-repetitivesequenceofthehumangenome.

• Eachassayiscustomdevelopedforthegenomicregiontobeevaluated.ThisservicemaybeusefulforlaboratoriesthatneedtofollowuponarrayCGHfindingsthatcannoteasilybeverifiedbyFISH.

Molecular CytogeneticsAmongthefirstclinicallaboratoriestoofferwhole-genomeoligonucleotidearrayCGH,GeneDxhasgainedsignificantexperienceinanalyzingandinterpretingcopynumberchangesinthehumangenome.Ourboard-certifiedmedicalgeneticists,whohaveexpertiseincytogeneticsandmoleculargenetics,carefullyevaluateeachgenomicvariationandprovideclearlywritten,well-researched,andclinicallyusefulresultreports.GeneDxhasnowexpandeditsmolecularcytogeneticsservicesbyaddingtheFISHonChipDxarrayandtraditionalFISHtoitstestmenu.

Why should you choose GeneDx for molecular cytogenetics?

GeneDx has:

• All necessary technologies in one laboratory:

— Microarrays: GeneDxhasexpertiseinclinicaltestingusingcustom-designedoligonucleotidemicroarrays.GeneDxoffersarangeofmicroarrayssuchasGenomeDx,FISHonChipDx,andExonArrayDx.

— FISH: GeneDxperformsFISHtestingforcommonmicrodeletion/duplicationsyndromesandforsubtelomericorcentromericimbalances.

— qPCR: TraditionalFISHtestingwithBACprobesisoftennotusefulforevaluatingcopynumberchangessmallerthan75–100kborfortandemduplications.GeneDxhasmanyyearsofexperienceinconfirmingsuchgenomicalterationsbycustomizedquantitativePCR.

• Carefully researched and thoughtfully written reports:

Ourresultreportsproviderelevantgeneticinformation,arewellresearchedandclearlywritten,andassistthereferringphysician/clinicwithresultinterpretation.

• Geneticists and genetic counselors on call:

— GeneDxstaffincludes12board-certifiedmoleculargeneticists,clinicalgeneticists,cytogeneticists,andgeneticcounselorswithbroadexperienceingenetictestingandreporting.

— Wearealwaysavailabletoansweryourquestionsandresolveanyissuesrelatedtoasubmittedcase.

• Follow-up testing services:

— TestingofparentalsamplesbyquantitativePCRisperformedatnoadditionalcostwhennecessarytointerpret theproband’sresults.

— FISHtestingofparentsorotherrelativesisalsoavailable,forexample,toidentifycarriersofabalancedtranslocation.

— Testingforanyknownfamilialgenomicimbalanceorsequencemutationisavailabletofamilymemberstoassistwithevaluatingtheirrisksandtheirmedicalcare.

— Prenataltestingforaknownfamilialpathogenicfindingisavailable.

Clinical indications for GenomeDx:

•Multiplecongenitalanomalies

•Mentalretardation

•Developmentaldelay

•Dysmorphicfeatures

•Autismspectrumdisorders

•Suspectedgenomicdisorder

•Familialgenomicimbalance

Clinical indications for FISHonChipDx:

•Suspecteddeletion/duplicationsyndrome

•Verificationofterminaland

pericentromericimbalancesdetected

bykaryotypeanalysis

•ReplacementtestforsubtelomereFISH

panelormultipleFISHtests

•First-passgenomescaninpatientswith

developmentaldelayand/ormental

retardation

•Familialgenomicimbalance

To order a test or for further information, please visit www.genedx.com.

GeneDx is a highly respected company that specializes in genetic testing for rare inherited disorders. Two scientists from the National Institutes of Health (NIH) founded the company in 2000 to address the needs of patients and clinicians concerned with rare inherited disorders. Currently, GeneDx offers testing for more than 200 rare Mendelian disorders, using DNA sequencing and deletion/duplication analysis of the associated gene(s). GeneDx also offers oligonucleotide microarray-based testing for detecting chromosomal abnormalities, testing for autism spectrum disorders and testing for various forms of cardiomyopathy. At GeneDx, our technical services are matched by our scientific expertise and customer support. Our growing staff includes more than 12 experts in molecular and clinical genetics and six genetic counselors who are just a phone call or email away. We invite you to visit our website, www.genedx.com, to learn more about us and the services that we offer.

207 Perry Parkway | Gaithersburg, MD 20877 | 1 301 519 2100 tel | 1 301 519 2892 fax | GeneDx@GeneDx.com

www.genedx.com

About GeneDx

© 2008 GeneDx, Inc. All rights reserved. GDX-90372/2008-09

Genomic regions assayed by FISHonChipDx array and individual FISH tests:

1p36 deletion syndrome 1p361q21 microdeletion (TAR) 1q21.11q21 distal microdeletion 1q21.11q41 – 1q42 microdeletion 1q41 – 1q422p15 microdeletion 2p152q32.2 – 2q33 microdeletion 2q32.2 – 2q332q37 microdeletion 2q373q29 microdeletion 3q296p25 microdeletion 6p257q11 Williams region duplication 7q11.328p23 microdeletion 8p23.19q34 subtelomeric deletion 9q3410q22 – 10q23 deletion 10q22 –10q2312q24 microdeletion 12q24.214q11.2 microdeletion 14q11.215q13.3 microdeletion 15q13.1 – 15q13.315q24.2 microdeletion 15q24.2 – 15q24.316p11.2 microdeletion/duplication 16p11.216p11.2 – 16p12.2 microdeletion 16p11.2 – p12.216p13.1 microdeletion/duplication 16p13.117q12 microdeletion 17q1217q21 microdeletion/duplication 17q2122q11.2 microdeletion/duplication 22q11.222q11.2 distal microdeletion 22q11.222q13.3 microdeletion 22q13.3Alagille syndrome 20p12.2Alpha thalassemia/mental retardation 16p13.3Angelman syndrome 15q11.2 – 15q13.1Basal cell nevus syndrome 9q22.32Beckwith-Wiedemann syndrome 11p15.5Cat-eye syndrome 22q11.21Charcot-Marie-Tooth disease 17p11.2CHARGE syndrome 8q12.2Cornelia de Lange syndrome 5p13.1

Cowden syndrome 10q23.31Cri-du-chat syndrome 5p15.2DiGeorge/Velocardiofacial syndrome 22q11.2Gonadal dysgenesis Yp11.3Greig cephalopolysyndactyly 7p14.1Hemophilia A Xq28Hemophilia B Xq27.1Hereditary neuropathy with pressure palsies 17p11.2Kallmann syndrome Xp22.31Langer-Giedion syndrome 8q24.11Leri-Weill dyschondrosteosis Xp22.33MECP2 duplication MR syndrome Xq28Miller-Dieker syndrome 17p13.3Nablus mask-like facial syndrome 8q21.3 – 8q22.1Neurofibromatosis type 1 17q11.2Neurofibromatosis type 2 22q12.2Pelizaeus-Merzbacher syndrome Xq22.2Polycystic kidney disease 16p13.3Potocki-Lupski syndrome 17p11.2Potocki-Shaffer syndrome 11p11.2Prader-Willi syndrome 15q11.2 – 15q13.1Retinoblastoma 13q14.2Rett syndrome Xq28Rubenstein-Taybi syndrome 16p13.3Saethre-Chotzen syndrome 7p21.1Smith-Magenis syndrome 17p11.2Sotos syndrome 5q35.3Steroid sulfatase deficiency Xp22.31Tuberous sclerosis type 2 16p13.3WAGR syndrome 11p13Williams-Beuren syndrome 7q11.23Wilms tumor 11p13Wolf-Hirschhorn syndrome 4p16.3All subtelomeric and pericentromeric regions