Maternal Serum Screening

NeuralTubeDefects(e.g.spinabifida):Recommendationsaretotestabloodsamplefromallwomeninallpregnanciesforfourbiochemicalmarkers(quad‐screen)at16weeksand/ortohaveanultrasoundstudy.Chromosomedefects(e.g.Downsyndrome):Recommendationsaretotestallwomeninallpregnancieswithtwobiochemicalmarkersandbyltrasoundat11‐13weeks.uManyindicationsexistforgeneticcounseling.Recommendationsareespeciallyforcouplesorindividu

Genetic Counseling and Evaluation

alsconcernedabout: Apersonalgeneticdisorder Achild’sorfamilymember’sgenetic

disorder Evaluationofdevelopmentaldelay,

intellectualdisability,autism,andbirthdefects

Earlyonsetofcancerorfamilyhistoryof

multiplecancersAfamilyhistoryofanhereditarydisorder

Acarriertestbecausethepersonhasaspecificethnicorigin(e.g.,Italians,Greeks,andothersofMediterraneandescent;Blacks,Jews,Asians)orconsanguinity

Apreviouschildwithabirthdefectorintellectualdisability

Risksofrecurrence,orforanytreatmentorcareofageneticdisorder

AmnioticFluidStudiesforNeuralTubeDefects(NTDs)

AmnioticFluidAlpha‐fetoprotein(AFP)assaysaredoneonallamnioticfluidsamples.

teraseandWheneverindicated,acetylcholinesfetalhearespe

moglobinassaysareadded.Theseassayscificallyrecommendedfor:

eviouschildwithanreerelative

Coupleswhohaveapr

NTDoranaffectedfirstdeg

OneparenthasaNTDA alserumAFP

C phrosisorotherleakinghighmaternongenitalnefetaldefects

RapidInterphaseFISHAnalysis

rIndicatedforurgentsecondandthirdtrimestealdefectispresentorriskisstudywhenafet

high.Diagnosticfocusisonchromosomes21,18,13,XandY.completeroutinechromosomeanalysisisstilleeded.An

CENTER FOR HUMAN GENETICS, INC.

Molecular Genetic (DNA) diagnoses

syndromes Genetic evaluation for intellectual

disability, autism, and birth defects Genetic counseling for genetic

disorders, pregnancy, and infertility Prenatal diagnosis of genetic

disorders Maternal serum screening for fetal

genetic disorders Molecular cytogenetics of cancer Paternity testing by DNA analysis

all 617- -

Center for Human Genetics, Inc. Riverside Technology Center 840 Memorial Drive, Suite 101 Cambridge, MA 02139 617-492-7083

For information and the latest available tests, see our website at

www.CHGINC.org

For appointments: call 617-492-5106

For general inquiries: call 617-492-7083

Clinical diagnosis of genetic disorders and

CENTER FOR HUMAN GENETICS, INC.

Molecular Genetic (DNA) diagnoses

syndromes Genetic evaluation for intellectual

disability, autism, and birth defects Genetic counseling for genetic

disorders, pregnancy, and infertility Prenatal diagnosis of genetic

disorders Maternal serum screening for fetal

genetic disorders Molecular cytogenetics of cancer Paternity testing by DNA analysis

Center for Human Genetics, Inc. Riverside Technology Center 840 Memorial Drive, Suite 101 Cambridge, MA 02139 617-492-7083

For information and the latest available tests, see our website at

www.CHGINC.org

For appointments: call 617-492-5106

For general inquiries: call 617-492-7083

Clinical diagnosis of genetic disorders and

JEFF MILUNSKY, M.D., F.A.C.M.G. Co-Director, Center for Human Genetics, Inc. Director, Clinical Genetics Senior Director, Molecular Genetics AUBREY MILUNSKY, M.D., D.Sc., F.R.C.P., F.A.C.M.G. Founder and Co-DirectorCenter for Human Genetics, Inc.

Center for Human Genetics, Inc. Riverside Technology Center 840 Memorial Drive, Suite 101 Cambridge, MA 02139 Tel: (617)-492-7083 Fax: (617)-492-7092 Email: jmilunsky@chginc.org amilunsky@chginc.org

For appointments, call 617-492-5106

Free parking and Phlebotomy on site

A

DIAGNOSTIC SERVICES

Diagnosis,carrierdetection,pre‐symptomaticandprenataldiagnosisisprovidedforarapidly

rders.Wewillanalysiselsewhere

Molecular (DNA) Analyses

increasinglistofgeneticdisoxtractDNAandarrangeforordisordersnotonourlist.efMolecularDiagnosisGenesequencinganddeletion/duplicationanalysisaswellasdirectmutationdetectionisprovidedforover100geneticdisorders.Ourextensivemultisystemcoverageincludes

es,neurogenetics,connectivetissuesyndromcancers,ethnic‐relateddisorders,andmitochondrialandmetabolicdisorders.ExamplesincludeNeurofibromatosis,Marfansyndrome,Ehlers‐

nandDanlos,Kabukiandothersyndromes,colocers,carriertestsforAshkenazi,CysticFibrosis,andSickleCell

othercandisordersdisease.

This center is an international clinical and reference laboratory for the diagnosis of genetic disorders. Overall experience in the provision of genetic services now exceeds 30 years with a cumulative case-load among the largest in the United States. The specialized services described below include

services to physicians in all specialties.

evaluation of patients and employ the latest molecular

and cytogenetic techniques, providing diagnostic

PaternityTests

DNAstudiesprovidecertainty(>99.99%)forpaternitydetermination.DNABanking

BankingaDNAsamplefromafamilymemberwithaknownorasyetunresolvedgeneticdisordermaybeextremelyimportantforothersinthefamilyodetermineprecisediagnosisorforfuturefamilylanningorprenataldiagnosis.tp

Chromosome Analyses

BloodChromosomeAnalysis

Mostimportantindicationsinclude: alEvaluationofbirthdefects,intellectu

disability,autism,andsyndromesAcouplewithrecurrentmiscarriage

mosomeParentsofanoffspringwithachro

defectEvaluationforlearningdisordersvaluationofinfertility

familyhistoryofachromosomedefect E

A

Cancer Cytogenetic Analysis

Fordeterminationofcharacteristicchromosomeabnormalitiesinblood, bonemarrow, and tumors

Chromosome Analysis of the Products of Conception/Stillbirth

Studiesfocusedontissueobtainedfollowingspontaneousorelectiveabortion,fetaldeath,orstillbirth.Fluorescent in situ hybridization (FISH)

Thefoll ongmany:

owingareexamplesam Angelmansyndrome

Markerchromosomes Miller‐Diekersyndrome

Prader‐Willisyndrome Translocations(Cryp

Velocardiofacial/DiG William’ssyndrome

tic) eorgesyndrome[22q‐]

myelodysplasia,andothercancers.

forleukemias,lymphomas,

Prenatal Diagnosis

Chromosomestudy/SNPMicroarray

Themostimportantindicationsforstudyare:advancedmaternalage

e

Previousoffspringwithanychromosomdefect

IncreasedoddsforDownsyndrome(orernalotherchromosomedefect)aftermat

serumscreening saAparentalcarrieroronewhoha

chromosomedefectDiscoveryofafetalanomalyorintrauterinegrowthrestriction

Recommendedasthefirsttestfordiagnosisofintellec ariousbirthdefects.

tualdisability,autism,andv

Invaluablefordetectionofationchromosome/genedeletion/duplic

disorders. Importantforprenataldiagnosisif

ultrasoundrevealsafetalabnormality.

SNP Microarray Analysis A non-profit corporationCenter for Human Genetics, Inc.

We are priviledged to serve physicians in allstates in the USA and more than 44 countries.