These are testing sites for CADASIL. Please is you use any of these sites, let
them know you were referred by us.
If you know of any other testing site, please e-mail us at info@cadasilfoundation.org.
We have testing sites from all around the world which includes: USA, CANADA, AUSTRALIA,
AUSTRIA, FRANCE, ENGLAND, GERMANY, KOREA, NETHERLANDS, SPAIN AND ENGLAND
PHILADEPHIA, http://www.genetests.org/ e-mail:
stolle@email.chop.edu
Molecular Genetics Laboratory,
Abramson Research Center, Room 714G, 3615 Civic Center Boulevard, Philadelphia, PA
19104-4318
TEL: 215-590-8736 - FAX: 215-590-2156
Mutation detection by Conformation Sensitive Gel Electrophoresis (CSGE) and mutation
identification by DNA sequence analysis. Analysis of PCR products by gel shift assay
followed by sequencing to detect differences from the consensus sequence of Notch3.
The full screen assays the commonly mutated exons (3, 4, 11, 18 & 19) in
which 87% of mutations have been found as well as an additional five exons
in which any mutation has been reported (2, 5, 8, 14, 22 & 23)
which collectively have been shown to detect 94% of mutations in biopsy proven
cases.
Diagnostic confirmation, presymptomatic testing (NB: informed consent is absolutely
required) estimated cost Cost:$912 Full Screen; $276 Known
familial mutation
Turn Around: 2 - 4 weeks
CPT Codes: 83890, 83894, 83898, 83903, 83904, 83912
To perform the diagnostic test, a procedure may be used more than once (i.e. sequence
analysis of several coding regions of a gene). You might be interested in
reading the piece on CADASIL on the Gene Clinics web page at
http://www.geneclinics.org/profiles/cadasil/.
This is where my spouse donated blood to assist in creating a blood test for CADASIL.
BOSTON Website: http:/www.bumc.bu.edu/hg
Boston University School Of Medicine - Center for Human Genetics
AUBREY MILUNSKY, MB.B.Ch.,D.Sc.,F.R.C.P.,F.A.C.M.G., D.C.H EMail:
AMilunsk@bu.edu
Professor of Human Genetics, Pediatrics, Pathology and Obstetrics &
Gynecology, and Director, Center for Human MASS Genetics
Mailing address: 715 Albany St. W-4th Floor, Boston, MA 02118
Phone: (617) 638-7083 Fax: (617) 638-7092
Location: 700 Albany Street, Suite 408, Boston, MA 02118-2394
CADASIL causes repeated ischemic attacks and is related to mutations in the NOTCH3 gene.
Our laboratory offers DNA sequencing for the identification of mutations in the NOTCH3
gene with a detection rate of approximately 90%.
http://www.bumc.bu.edu/Dept/Content.aspx?PageID=2230&departmentid=118 CADASIL causes
repeated ischemic attacks and is related to mutations in the NOTCH3 gene. Our laboratory
offers DNA sequencing for the identification of mutations in the NOTCH3 gene with a
detection rate of approximately 90%.
http://www.bumc.bu.edu/Dept/Content.aspx?PageID=2230&departmentid=118
Refer to our web site for instructions about how to arrange for this
analysis. http:/www.bumc.bu.edu/hg They also see patients for
diagnosis, evaluation and genetic counseling, as well as genetic testing of course.
(Phone number for appointments is (617) 638-7083.)Genetic counseling, as well as
genetic testing of course. (Phone number for appointments is (617)
638-7083.) This Center for Human Genetics at Boston University School of Medicine
has again made history in achieving the first ever prenatal diagnosis of CADASIL.
The scientific paper reporting this achievement has been submitted for publication.
MASS
http://www.athenadiagnostics.com/site/product_search/test_description_template.asp?id=198
If you would like an Athena Representative to contact you, please send a contact request
form.
Athena Diagnostics, Inc. Four Biotech Park
377 Plantation Street Worcester, MA 01605 hone: 1-800-394-4493 or
1-508-756-2886 Fax: 508-753-5601 Athena
Diagnostics provides all shipping materials.
WASHINGTON
www.genetests.org Here our lab is listed as an outside US laboratory. When
tests are paid through insurances, we sometimes get a restricted laboratory permit"
from the State Department of Health. In general there are no problems with this
„outside USA" testing
www.genetests.org
EVANSTON, ILLINOIS, USA
The Center for Medical Genetics
Graham Medical Office Building
1000 Central Street
Suite 620
Evanston, IL 60201
For appointments call: 847-570-1029
Fax: 847-733-5318
Email: DNAhealth@enh.org
EVANSTON, ILLINOIS, USA
Athena Diagnostics, Inc.
Four Biotech Park
377 Plantation Street
Worcester, MA 01605
Phone: 1-800-394-4493 or 1-508-756-2886
Fax:508-753-5601
http://www.athenadiagnostics.com
BOSTON, MASS, USA
Boston University School Of Medicine -
Center for Human Genetics
AUBREY MILUNSKY
Mailing address: 715 Albany St. W-4th Floor,
Boston, MA 02118
Phone: (617) 638-7083 Fax: (617) 638-7092
Location: 700 Albany Street, Suite 408,
Boston, MA e-mail: AMilunsk@bu.edu
website: http:/www.bumc.bu.edu/hg
PHILADELPHIA, PA, USA
The Genetic Diagnostic Laboratory
University of Pennsylvania School of Medicine
Anatony & Chemistry Building, Room 415
3620 Hamilton Walk
Philadelphia PA 19104
Tel: 215-573-3030
Fax: 215-573-5940 or TEL: 215-590-8736 -
E-mail: stolle@email.chop.edu
http://www.geneclinics.org/profiles/cadasil/
VANCOUVER, CANADA
Molecular Genetics Laboratory
Vancouver, BC, Canada
email: moleculargenetics@cw.bc.ca
phone: (604) 875-2852 fax: (604) 875-2707
ALBERTA, CANADA
Alberta Children's Hospital
Molecular Diagnostic Laboratory
Calgary, Alberta, Canada
email: dna.lab@calgaryhealthregion.ca
phone: (403) 943-7026 fax: (403) 943-7624
LONDON, CANADA
Molecular Diagnostic Laboratory
Room E3-304 Westminster Tower, WC
London Health Sciences Centre
800 Commissioner’s Rd E.
London, Ontario, Canada
N6A 4G5
Ph: 519-685-8122 and Fax: 519-685-8279
E-mail: ainswort@uwo.ca or alan.stuart@lhsc.on.ca
WINNIPEG, CANADA
Health Sciences Centre
Molecular Diagnostic Laboratory
Winnipeg, Manitoba, Canada
email: mgibb@hsc.mb.ca
phone: (204) 787-1024 ext 3 fax: (204) 787-3846
CANADA
Children's and Women's Health Centre of BC
Molecular Genetics Laboratory
Vancouver, BC, Canada
http://www.genetests.org/
Director: Brett Casey, MD, US Genetic Board Certification: American Board of Medical
Genetics (Clinical Molecular Genetics) Genetic Counselor: Genetic Counselor:
Patricia D Power, MSc email: ppower@cw.bc.ca phone: (604) 875-2852 fax: (604)
875-2707 Method: Sequencing of select exons Comments: Exons 3 and 4
BERLIN, GERMANY
Website at www.gene-analysis-service.de
Contact information of the managing director.
Dr. Alfred C. Looman PhD. Gene Analysis Service GmbH, Grainauer Str. 12,
10777 Berlin, Germany. phone: +(49)-30-84707430.
looman@gene-analysis-service.de
To support the CADASIL patients and their families please let this lab know you were
referred by this organization and they will grant a reduction of 10% on their price for
CADASIL testing. They encourage to donate the 10% saved on testing to CADASIL
Together We Have Hope. This is a private laboratory which works with your neuologist
and specialized in molecular biological analysis. This means we can isolate nucleic acids
from all living materials, amplify specific genes or parts of genes, and determine the
exact base sequence of those genes. Among other applications, such information can be used
to a) confirm or exclude the diagnosis of a genetically determined disease, b) do a
prenatal or pre-implantation analysis for carriership, c) test relatives of patients that
show no signs of the disease.
This laboratory analyzes the Notch3 exons according to their probability of being mutated.
Most mutations (70%) have been found
in the exons 3 and 4 and thus are tested primarily. The whole gene has 33 exons. They do
accept samples for testing from medical professionals however, and a person who wants to
be tested should seek the advice e.g. of a geneticist or neurologist. If the doctor gives
his OK, and we have an informed consent, signed by the person who wants to be tested (or
its parents), we can do the genetics and report the results to the MD sending us the
sample. We have performed pre-symptomatic testing for Notch3 mutations in about 6 cases
(Germany, Greece, persons 1-35 years of age)
For the medical society, the information on our testing services (a.o. CADASIL) is
available at the GeneTest organiZation in Seattle Washington.
www.genetests.org Here our lab is listed as an outside US laboratory. When tests are
payed through insurances, we sometimes get a restricted laboratory permit" from the
State Department of Health. In general there are no problems with this „outside
USA" testing
www.genetests.org
This lab test for CADASIL all around the world.
WEST GERMANY Neurologisches Forschungshaus
Marchioninistr.23 Tel.: +49- 89- 7095- 4810, 7801, 7805, 4813 Fax: +49-
89- 7095- 4805Tel.: +49- 89- 7095- 4810, 7801, 7805, 4813 Fax: +49- 89- 7095- 4805
A direct DNA-diagnostics previously only is restricted possible. It is very costly based
on the size of the gene (33 Exons with 7 kb of coding sequence). Previously were found
over 30 different mutations in the NOTCH3 - gene, lie two-thirds therefrom in Exon 3 or 4.
All mutations are localized within the EGF-domain. In most felling, it concerns so-called
“missense”-Mutationen, that involve Cysteinreste.
The diagnosis can be secured henceforth through a skin punch. There it in CADASIL around
one Arteriopathie generalized acts itself, can be proved the described container wall
variations also in the containers of the skin. The proof results by means of
Elektronenmikroskopie. The investigation of Biopsaten is established in Munich, can be
carried out however basically in each pathological department with possibilities to the
Elektronenmikroskopie. In suspicion on existence of CADASIL (Anamnese for early using
cerebral through hemorrhage interferences, missing blood high pressure,
leukenzephalopathische variations in the Kernspintomographie, positive and/or suspect
Familienanamnese), we carry out first of all a Hautbiopsie. In the subsequent electrons
optical investigation, also Arteriolen should found next to capillaries and examines be.
Parallel to the Biopsie, we take 20 ml EDTA-bloods for the DNA-diagnostics.
Head of our group is Dr. Martin Dichgans, he is an attending physician at the Neurology
Dept. of the University of Munich. At the moment, there are three more physicians in his
group who are involved in CADASIL: Dr. Nils Peters Dr. Christian Opherk Dr. Andreas
Gschwendtner (myself). Please mention Dr. Dichgans as the head of our group as contact
person: PD Dr. Martin Dichgans Ludwig-Maximilians-Universität München Klinikum
Grosshadern - Neurologie Marchioninistrasse 15 81377 München GERMANY/
VIENNA, AUSTRIA
Praxis for Humangenetik
Facharzt für Humangenetik und Medizinische Biologie
Brünnlbadgasse 15, Tür 6, A-1090 Wien
Vienna, Austria
Tel.: 01/95 80 164 oder 0664 42 622 58
Fax: 01/95 80 164
E-mail: humangenetik@gencik.com