Directory of Medical Research Laboratories
This international directory contains information about medical laboratories
which are engaged in research into Angelman syndrome. In addition to contact
data, the directory lists the diagnostic tests (excluding the routine
FISH and methylation tests) provided by these laboratories as well as
other research interests pertaining to Angelman syndrome. The FISH and
methylation tests are also offered by all diagnostic laboratories listed
in this directory.
DISCLAIMER
The information about research laboratories presented on this website
comes from the listed laboratories, and has not been independently verified
by the IASO. The IASO makes an effort to keep the information up-to-date,
but does not guarantee its accuracy.
The presence of information on this website does not constitute an endorsement
of, advertisement for, or offer to sell any service provided at any listed
facility.
Laboratory participation in the Angelman Syndrome Research Laboratory Directory
is voluntary. The Directory is not a comprehensive listing of all services
available for diagnosis, counseling, and management of Angelman syndrome. In
particular, laboratories are not listed if they only provide standard FISH,
UPD and methylation tests without any specific research interest.
The IASO is not responsible for the quality of information exchanged between
the users of this Directory and the research laboratories, nor for the accuracy,
reliability, completeness, timeliness, necessity or usefulness of any of the
services provided by the laboratories listed in the Research Laboratory Directory.
Each user must make these determinations after discussion with laboratory representatives.
The IASO does not warrant any aspect of any clinic's work.
Australia
Department of Cytogenetics, Children's Hospital at Westmead
Principal investigator: Dr. Arabella Smith
Postal address:
Locked Bag 4001
Westmead 2145
Australia
Tel. +61 2 9845 3222
Fax: +61 2 9845 3238
Email: ellies@chw.edu.au
Diagnostic tests available: cytogenetics, FISH and methylation - 2 probe systems.
We accept blood samples from abroad.
Other research interests: Angelman syndrome clinic with Dr. Robert Leitner
at St. George Hospital Assessment Centre.
Belgium
Center for Human Genetics, University Hospital of Leuven
Principal investigator: Prof. Jean-Pierre Fryns
Postal address:
Prof. Jean-Pierre Fryns
Chairman, Center for Human Genetics CME-UZ
University Hospital of Leuven
Herestraat 49
B-3000 Leuven
Belgium
Tel. +32-16-345903
Fax: +32-16-346051
Email: Jean-Pierre.Fryns@med.kuleuven.ac.be
Diagnostic tests: All diagnostic tests available. Blood samples from abroad
are accepted.
Other research interests: Behavioural phenotype in A.S.; Ageing in A.S.; Research
project on MecP2 Mutations and cryptic chromosomal rearrangements in individuals
with Angelman-like syndrome
Brazil
Unidade de Aconselhamento Genetico do Centro de Estudos do Genoma
Humano, Departamento de Biologia, Instituto de Biociencias da Universidade
de Sao Paulo, Sao Paulo, SP
Principal investigator: Prof Dr. Celia Priszkulnik Koiffmann.
Postal address:
Departamento de Biologia,Instituto de Biociencias,
USP,
Rua do Matao 277,
Cidade Universitaria,
Sao Paulo, SP,
Brasil.CEP 05508-900.
Tel. +55 11 38187582
Fax: +55 11 38187419
Email: cpkoiffm@ib.usp.br
Homepage: http://genoma.ib.usp.br
Diagnostic tests available: Multiplex PCR for deletion/UPD detection as diagnosis.
UBE3A mutations as research. Blood samples from abroad accepted. Costs if the
family can afford: For multiplex PCR US$200,00, UBE3A US$300,00, Karyotype
with FISH US$100,00.
Canada
Department of Medical Genetics, University of British Columbia, Vancouver,
B.C.
Principal investigator: Wendy P. Robinson, Ph.D.
Postal address:
Department of Medical Genetics
University of British Columbia
950 W. 28th Ave.
Vancouver B.C. V5Z 4H4
Canada
Tel. (604) 875-3229
Fax: (604) 875-3120
Email: wrobinson@shaw.ca
Homepage: http://www.medgen.ubc.ca/wrobinson/labweb2/labindex.htm
Diagnostic tests available:
Other research interests: My lab is interested in uniparental disomy and how
it arises.
Finland
Oulu University Hospital, Oulu
Contact person: Marja-Leena Väisänen, Ph.D.
Postal address:
Department of Clinical Genetics,
Oulu University Hospital,
Kajaanintie 50,
FIN-90220 Oulu,
Finland
Tel. +358 8 315 3368
Fax: +358 8 315 3243
Email: mlvaisan@cc.oulu.fi
Diagnostic tests available: Methylation test for the SNRPN locus, deletion
and UPD analysis, UBE3A mutation screening, also in samples from abroad.
France
Departement de Genetique Medicale, Service du Professeur JF Mattei,
Hôpital d'Enfants de la Timone, Marseille
Principal investigators: Dr Anne Moncla and Dr Perrine Malzac
Postal address:
Hopital des enfants de la timone
264, rue Saint-Pierre
13 385 cedex 05 Marseille
France
Tel. +33 4 91 38 69 10
Fax: +33 4 91 49 41 94
Email: amoncla@ap-hm.fr / pmalzac@ap-hm.fr
Diagnostic tests available: We have elaborated a strategy for the screening
of the different molecular anomalies associating cytogenetic molecular analysis.
We also perform the UBE3A screening. We may accept blood samples from abroad
with clinical information.
Germany
Universitaetsklinikum, Essen
Principal investigators: Dr. Karin Buiting and Prof. Dr. Bernhard Horsthemke
Postal address:
Institut fuer Humangenetik
Universitaetsklinikum Essen
Hufelandstrasse 55
D-45122 Essen
Germany
Tel. +49 201 7234560
Fax: +49 201 7235900
Email: karin.buiting@uni-essen.de
Diagnostic tests available Methylation-specific PCR for the SNRPN locus, microsatellites
analysis and characterization of imprinting defects, also in samples from abroad.
Other research interests: Regulation of imprinted UBE3A expression.
Institute of Human Genetics, Humboldt University, Berlin
Principal investigator: Dr. Joachim Buerger
Postal address:
Institute of Human Genetics
Humboldt University
Augustenburger Platz 1,
D-13353 Berlin,
Germany
Tel. +49 30 450 566328
Fax: +49 30 450566904
Email: raymonda.varon.mateeva@charite.de
Diagnostic tests available: Methylation-specific PCR for the SNRPN locus, microsatellites
analysis and UBE3A mutation screening, also in samples from abroad. UBE3A mutation
screening needs approx. 4 months and costs approx. 500 euro.
Israel
The Hebrew University Medical School of Jerusalem, Jerusalem
Principal investigators: Prof. Aharon Razin, Dr. Ruth Shemer and Prof. Howard
Cedar
Postal address:
Department of Cellular Biochemistry and Human Genetics,
The Hebrew University Medical School
Jerusalem 91120
Israel
Tel. +972 2 6758172
Fax: +972 2 6415848
Email: razina@md2.huji.ac.il - shemer@md2.huji.ac.il
Diagnostic tests available:
Other research interests: Our research interests focus on the molecular mechanism
of the imprinting control of the AS\PWS
Italy
Istituto Auxologico Italiano, Cytogenetics and Molecular Genetics
Laboratory, Milan
Principal investigators: The Director of all the lab is Prof. Lidia Larizza,
University of Milan, but you can contact Dr Silvia Russo for Molecular Biology
topics and Dr Daniela Giardino for cytogenetic topics.
Postal address:
Dr. Silvia Russo
Ist Auxologico Italiano
Molecular Genetics Laboratory
viale Montenero 32
I-20135 Milan
Italy
Tel. +39-0255192860
Fax: +39-025456913
Email: s.russo@auxologico.it
Dr. Daniela Giardino
Ist Auxologico Italiano
Cytogenetics Laboratory
via S Vittore 45
I-20123 Milan
Italy
Tel. +39-0255192860
Fax: +39-025456913
Email: giardino@auxologico.it
Diagnostic tests available: All diagnostic tests are available. Blood samples
from abroad are accepted. In the cytogenetics lab, we perform the FISH test.
In the molecular genetics lab, we perform (beyond the methylation test) microsatellites
analysis to investigate UPD, southern blot with IC3 probe and sequencing of
AS-SRO region in order to screen for imprinting centre defects, and sequencing
of the coding region of UBE3A. IC mutation analyses are done as part of a research
project. There is no fee for this work, as it is supported by research grants.
Other research interests: Genotype-phenotype correlations; screening of other
candidates fro AS patients without a diagnosis; chromosomal rearrangements
in individuals with Angelman-like syndrome.
Japan
Department of Pediatrics, Hokkaido University School of Medicine,
Sapporo
Principal investigator: Shinji Saitoh, M.D., Ph.D.
Postal address:
N-15, W-7, Kita-ku, Sapporo 060-8638, Japan
Tel. +81-11-716-1161 (ext. 5954)
Fax: +81-11-706-7898
Email: ss11@med.hokudai.ac.jp
Diagnostic tests available: Methylation test is provided to anyone. UBE3A mutation
search and further molecular investigation on the patients with imprinting
defect are available under limited conditions. Need to discuss prior to receiving
samples.
Other research interests:
Molecular mechanism of imprinting defect/mutation.
Reactivation of imprinted genes.
Sleep disorder associated with AS.
Department of Paediatrics, Tokyo Medical University, Tokyo
Principal investigator: Hironao Numabe, M.D.
Postal address:
6-7-1, Nishi-Shinjuku, Shinjuku-ku Tokyo 160-0023, Japan
Tel. +81 3 3342 6111
Fax: +81 3 3356 1070
Homepage: http//www.tokyo-med.ac.jp/genet/index-e.htm
Email: hnumabe@tokyo-med.ac.jp
Diagnostic tests available: Chromosomal analyses including FISH (25,000 JPY)
Other research interests: neurological follow-up, genetic counselling
The Netherlands
Department of Clinical Genetics, University of Amsterdam, Amsterdam
Principal investigator: Dr. M.M.A.M. Mannens, Head, DNA-diagnostics laboratory
Postal address:
University of Amsterdam
Department of Clinical Genetics
Meibergdreef 15
1105 AZ Amsterdam
The Netherlands
Tel. +31 20 5665110
Fax: +31 20 6918626
Email: m.a.mannens@amc.uva.nl
Diagnostic tests available: UBE3A tests. Samples from abroad accepted.
Spain
Corporació Sanitària Parc Taulí, Spain
Principal investigator: Dr. Miriam Guitart
Postal address: Unitat de Genètica i Immunologia
Edifici UDIAT
Parc Taulí s/n
08208 Sabadell,
Barcelona, Spain
Tel. +34 93 723 10 10 (ext 26111)
Fax: +34 93 716 20 04
Email: mguitart@cspt.es
Diagnostic tests available: Methylation-specific PCR for the SNRPN locus, FISH
with D15S10 probe and microsatellites analysis. UBE3A mutation screening is
done as part of a research project.
We accept blood samples from abroad for:
- M-PCR analysis: 172,10 euro
- FISH: 187.51 euro
- 5 microsatellites analysis: 288.10 euro
- M-PCR / karyotype / FISH: 427.10 euro
Switzerland
Institute of Medical Genetics, University of Zurich
Principal investigator: Alessandra Baumer, Ph.D.
Postal address:
Institute of Medical Genetics
University of Zurich
Raemistr. 74
CH-8001 Zurich
Switzerland
Tel. +41 1 634 88 08
Fax: +41 1 634 49 16
Email: baumer@medgen.unizh.ch
Diagnostic tests available: methylation at SNRPN; microsatellites; search for
UBE3A gene mutations. We also perform the analysis for cases sent to us from
abroad.
Other research interests: I have recently developed a new method for the analysis
of the SNRPN-methylation status. The method is based on methylation specific
PCR followed by DHPLC analysis (Human Mutation, in press).
The UK
Great Ormond Hospital for Children NHS Trust and Institute of Child
Health, London
Principal investigator: Dr. Stewart Boyd
Postal address:
Department of Clinical Neurophysiology
Great Ormond Hospital for Children NHS Trust and Institute of Child Health
Great Ormond Street
London WC1N 3JH
UK
Tel +44 20 7813 8471
Fax +44 20 7829 8627
Email: S.Boyd@ich.ucl.ac.uk
Diagnostic tests available:
Research interests: Clinical neurophysiological investigations on Angelman
children. We are currently developing methods to test language function and
processing in AS patients and continue to look at aspects of the EEG and other
measures. We do not have external funding at present.
Regional Molecular Genetics Laboratory, St. Mary's Hospital, Manchester
Contact person: Simon Ramsden
Postal address:
Regional Molecular Genetics Laboratory
St Mary's Hospital,
Hathersage Rd
Manchester M13 OJH
UK
Tel. +44 161 276 6122
Email: sramsden@smhs.cmht.nwest.nhs.uk
Diagnostic tests available: UBE3A screening. We can accept samples from outside
the UK. Cost of screening the whole gene is around £600 and turnaround
time is a few weeks.
The USA
Note: In the USA, only laboratories with a so-called CLIA certification
are entitled to release diagnostic test results to families and physicians.
Such laboratories in this directory have indicated their CLIA number.
Baylor College of Medicine, Houston, TX
Principal investigators: Arthur L. Beaudet, M.D., and Carlos Bacino, M.D.
Postal address:
Department of Molecular and Human Genetics
One Baylor Plaza
Houston, TX, 77030
USA
Tel. 713 798 4795
Fax: 713 798 7773
Email: abeaudet@bcm.edu and cbacino@bcm.edu
Homepages: http//www.imgen.bcm.tmc.edu/molgen (departmental)
http://imgen.bcm.tmc.edu/molgen/facultyaz/beaudet.html (Dr.
Beaudet)
Diagnostic tests available: Go to laboratory website http//www.bcmgeneticlabs.org for
details. FISH available from Kleberg Cytogenetics Lab. Methylation available
from DNA Diagnostic Lab. CLIA Certification # for Baylor College of Medicine:
45D0704773 for chromosomes and FISH and 45D0660097 for DNA methylation and
mutation studies.
Research interests: Diagnostic interest in unusual cases -
start with E-mail to Dr. Beaudet. Clinical trial of folic acid and betaine
- start with E-mail to Dr. Bacino
University of California, Los Angeles, CA
Principal investigator: Richard W. Olsen, PhD
Postal address:
Department of Molecular and Medical Pharmacology,
UCLA School of Medicine
P.O. Box 951, 735 Los Angeles, CA
USA
Tel. 310 825-5093 (office), 310 825 5748 (laboratory)
Email: rolsen@mednet.ucla.edu
Homepage:
http://dgsom.healthsciences.ucla.edu/research/institution/personnel?personnel%5fid=46764
Diagnostic tests available:
Research interests: see homepage.
The University of Chicago, Chicago, IL
Principal investigators: David H. Ledbetter, Ph.D., Soma Das, Ph.D.
Postal address:
The University of Chicago Genetic Services
5841 S. Maryland Ave., MC 0077, Rm. L-163
Chicago, IL 60637
USA
Tel. (888) 824-3637 or (773) 834-0555
Fax: (773) 834-0556
Email ucgslabs@genetics.uchicago.edu
Department Homepage: http//www.genes.uchicago.edu
Diagnostic tests available: Comprehensive testing services for Angelman syndrome,
including; methylation analysis by methylation sensitive-PCR (M-PCR)*; FISH;
UPD testing; UBE3a sequence analysis.
Clinical testing for imprinting defects is currently being developed. (*M-PCR
was first developed in our laboratory for clinical testing purposes. Nat. Genet.
1616-17, 1997)
For further information see:
http//www.genes.uchicago.edu/ucgs/special-diagnostics/PW-AS/ASstrategy.html
CLIA Certification # 14D0917593
Other research interests: Molecular mechanisms and consequences of chromosome
15 rearrangements and associated disorders, including Prader-Willi syndrome,
Angelman syndrome, autism, dup(15), and inv dup(15). For additional information
see http//www.genes.uchicago.edu/fri/dhlres.html
University of Florida, Gainesville, FL
Contact person: Charles Williams, M.D.
Postal address:
1600 SW Archer Road, ARB-R P.O. Box 100296
Gainesville, FL
USA
Tel. 352-392-4104
Fax: 352-292-3051
Email: Willica@peds.ufl.edu
Website: http://www.peds.ufl.edu/PEDS2/divisions/genetics/caw/index.htm
CLIA certification # 10D0645210
Diagnostic tests available: Cytogenetic lab offers FISH for 15q11-13 deletion
and duplication study. Any other diagnostic tests are limited and only available
on research basis. Clinical evaluations are available after review by Dr. Williams.
University of Pennsylvania, Philadelphia, PA
Principal investigator: Robert D. Nicholls, D.Phil.
Postal address:
Center for Neurobiology and Behavior
Department of Psychiatry
University of Pennsylvania
Clinical Research Building, Room 528
415 Curie Blvd.
Philadelphia, PA 19104-6140
USA
Tel. (office) 215-898-2616
Tel. (lab) 215-898-0265
Fax (lab): 215-898-0273
Email: robertn@mail.med.upenn.edu
Homepage: http://www.med.upenn.edu/ins/faculty/nicholls.htm
Diagnostic tests available: Methylation (at the SNURF-SNRPN promoter) and IC
mutation analysis are done as part of a research project(s) on patients with
an imprinting defect or unusual basis. There is no fee for this work as supported
by research grants, and samples can be accepted from any country (if necessary,
shipping costs can be covered) but prior contact is necessary please.
Other research interests: See homepage.
University of Virginia School of Medicine, Charlottesville, VA
Principal investigator: Joseph Wagstaff, MD, PhD
Postal address:
Department of Biochemistry and Molecular Genetics
University of Virginia School of Medicine
Jordan Hall, Box 800733
Charlottesville, VA 22908-0733
USA
Tel. (804)-243-5818
Fax: (804)-924-5069
Email: wagstaff@virginia.edu
Homepage: http://www.virginia.edu/bmg/faculty/wagstaff/wagstaff.html
Diagnostic
tests available:
Other research interests: See homepage.
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