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Tay-Sachs disease
by Yael Rosenberg, RN
Description
Tay-Sachs disease, the most well known Jewish genetic disease, is an
inherited metabolic disorder. It is an autosomal recessive genetic
disorder that is the result of mutation of the HEXA gene located on
chromosome 15. The basic defect in affected children is the
deficiency of an enzyme, hexosaminidase A. Without Hex A, a fatty
substance called GM2 ganglioside accumulates abnormally in cells
especially in nerve cells of the brain. This continual accumulation
causes progressive damage to the cells. There are two forms of this
disease, the well known infantile-onset form and a lesser known,
late-onset or adult form designated "chronic GM2-gangliosidosis"
Tay-Sachs Disease is fatal, and death occurs by the five to eight
years of life.
Symptoms
Infantile Tay-Sachs Disease
This disease is characterized by the onset of severe mental and
developmental retardation during the first four to eight months of
life. The process begins in the fetus early on the pregnancy,
although the disease is not clinically evident until the child is a
few months old. The baby appears normal at birth and seems to
develop normally until six months.
The first signs of Tay-Sachs Disease vary and are evident at
different ages in affected children. Initially development slows,
there is loss of peripheral vision caused by an abnormality in the
retina of they, and abnormal startle reflex. By the age of two years
most Tay-Sachs babies experience recurrent seizures, and diminished
mental status. The infant gradually regresses, losing skills one by
one.
Tay-Sachs Disease is fatal, and death occurs by the five to eight
years of life.
Late Onset of Tay-Sachs Disease - Chronic GM2-gangliosidosis
A late-onset form of hexosaminidase A deficiency occurs in
adolescents and adults of Ashkenazi Jewish ancestry. This disorder,
called chronic (or adult) GM2-gangliosidosis, or late-onset
Tay-Sachs disease (LOTS), has been detected in over 30 individuals
from Ashkenazi Jewish families residing in both the United States
and Israel. Onset of the disease occurs during childhood or
adolescence and is characterized by poor coordination, tremor,
and/or slurred speech.
Incidence and Carriers
Both infantile and adult forms of Tay-Sachs Disease occur more
frequently, though not exclusively, in a defined population.
Carrier Frequency: (Estimated)
1 in 27 to 1 in 30
Ashkenazi Jews
1 in 110 Moroccan
Jews
1 in 140 in Iraqi
Jews
1 in 27 in French
Canadians, Louisiana Cajuns
1 in 50 in Irish
Americans
1 in 250 in general
population
Disease Frequency: 1 in 3,600 (Infantile Type) and 1 in 67,000
(Adult Type) in Ashkenazi Jews
1 in 320,000 in general population in United States
Carrier screening programs for Tay-Sachs disease have reduced
disease incidence by 90% in high-risk populations in several
countries
http://jama.ama-assn.org/content/270/19/2307.short
Treatment
There is no cure for Tay-Sachs disease, treatment is symptomatic.
However, researchers are focusing on finding a cure. One venue that
is being explored by scientists is enzyme replacement therapy to
replace the Hex-A lacking in babies with Tay-Sachs. Another
direction that researchers are focusing on is gene therapy which
would involve the transfer of a normal gene to replace the abnormal
gene.
Testing
Blood test to measure the presence and quantity of the enzyme
Hexosaminidase A. The test can be done from umbilical cord blood
right after birth or with amniocentesis or CVS- chorion villus
sampling during pregnancy.
Genetic testing for HEXA gene mutation
Laboratories and Screening
The following laboratories offer genetic testing for Tay-Sachs
Disease:
• United States
• Israel
• Canada
• Europe
UNITED STATES
Ambry Genetics
100 Columbia #200
Aliso Viejo, CA 92656
Toll Free: (866) 262-7943
Phone: (949) 900-5500
Fax: (949) 900-5501
ARUP Laboratories
500 Chipeta Way
Salt Lake City, UT 84108-1221
Phone: (800) 522-2787
Fax: (800) 522-2706
Email:
clientservices@aruplab.com
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: (800) 411-GENE (4363)
Fax: (713) 798-2787
Email: genetictest@bcm.edu
Client Services Manager
Alejandra Quick
Phone: (713) 798-7656
Fax: (713) 798-2787
Email: ahquick@bcm.edu
Boston University School of Medicine- Human Genetics
700 Albany Street
Suite 408
Boston, MA 02118-2394
Phone: (617) 638-7083
Fax: (617) 638-7092
Buffalo General Hospital
Robert Guthrie Biochemical and Molecular Genetics Laboratory
Room A-762
100 High Street
Buffalo, NY 14203
Phone: (716) 859-7741
Fax: (716) 859-7749
Email: info@rgbmgl.org
Chicago Center for Jewish Genetic Disorders
Ben Gurion Way
30 S. Wells St.
Chicago IL 60606
Phone: (312) 357-4718
Email:
jewishgenetixsctr@juf.org
***Screening offered four times a year – subsidized for those
eligible
CytoGenX
1212 Rte 25A
Stony Brook, NY 11790
Phone: (888) GENE-MED
Director: Teresa Dunn, PhD
Phone: (631) 751-0212
Fax: (631) 751-0944
Email: genetics@cytogenx.com
Denver Genetic Laboratories
UCD DNA Diagnostic Laboratory
12800 East 19th Avenue
Mail Stop 8313
Aurora, CO 80045
Phone: (303) 724-3801 (Main laboratory)
Fax: (303) 724-3802 (HIPAA-secure)
Detroit Medical Center University Laboratories
University Health Center
4201 St. Antoine
Suite 3E-1
Detroit, Michigan 48201
Phone: (313) 993-2631
Fax: (313) 993-2658
Dor Yeshorim
160 Wilson St., Suite 1B
Brooklyn, NY 11211
Phone: (718) 384-2332
Modern Diagnostic Laboratory (Laboratory is a blood drawing station
for "Dor Yeshorim")
Phone: (718) 837-LAB2 (5222)
Fax: (718) 259-0088
Toll Free: (800) 98-MODERN outside 718 area code
Email: moderndiag@gmail.com
Dor Yeshorim
Touhy Health Center
2901 W. Touhy Ave.
Chicago, IL 60645
Phone: (773) 973-7350
Emory University School of Medicine
Emory Molecular Genetics Laboratory
Atlanta, GA
Phone: (404) 778-8500
Fax: (404) 778-8559
Email: eglgc@emory.edu
Genzyme Genetics
Esoteric Genetic Laboratories, LLC
4310 E. Cotton Center Boulevard
Suite 120
Phoenix, AZ 85040
Toll Free: (800) 645-6626
Phone: (602) 254-6620
Fax: (602) 254-7340
Genzyme Genetics
Esoteric Genetic Laboratories, LLC
2000 Vivigen Way
Santa Fe, NM 87505
Toll Free: (800) 848-4436
Phone: (505) 438-1111
Fax: (505) 438-1120
Genzyme Genetics
Molecular Diagnostic Laboratory
3400 Computer Drive
Westborough, MA 01581
Toll Free: (800) 255-7357
Phone: (508) 898-9001
Fax: (508) 389-5549
Genzyme Genetics General Inquiries:
Phone: (800) 357-5744
Fax: (508) 389-5549
Client Services - Reproductive Genetics
Toll Free: (800) 848-4436
Hartford Hospital
Clinical Lab Partners/Molecular Genetics and Cytogenetics
Newington, CT
Phone: (860) 545-3409
Fax: (860) 545-3733
Henry Ford Hospital, Department of Medical Genetics
2799 West Grand Blvd., CFP-4
Detroit, MI 48202
Phone: (313) 916-3188
Kimball Genetics
650 S. Cherry Street, Suite 225
Denver, Colorado 80246
Phone: (800) 320-1807 / (303) 320-1807
Fax: (303) 388-9220
Email:
info@kimballgenetics.com
LabCorp
1912 Alexander Drive
Research Triangle Park, NC 27709
Phone: (800) 345-4363
Fax: (919) 361-7798
Email: genetics@labcorp.com
Mount Sinai Genetic Testing Laboratory (DNA Division)
The Mount Sinai Medical Center
One Gustave L. Levy Place
New York, NY 10029-6574
Phone: (212) 241-3055
Fax: (212) 241-9467
Email:
rochelle.pakier@mssm.edu
Mount Sinai School of Medicine
Mount Sinai Genetic Testing Laboratory-Lysosomal Storage Diseases
New York, NY
Phone: (212) 241-6947
Fax: (212) 860-3316
New Jersey Medical School
Institute of Genomic Medicine
University Hospital
Director: James J Dermody, PhD, FACMG
150 Bergen Street, F Level,
Room F342
Newark, NJ 07103
Phone: (973) 972-3170
Fax: (973) 972-0795
NYU Langone Medical Center
Human Genetics Program
550 First Avenue, Room MSB 136
New York, NY 10016
Phone: (212) 263-5746
Fax: (212) 263-7590
PreventionGenetics
Molecular Diagnostics and BioBanking
3700 Downwind Drive
Marshfield, Wisconsin 54449 USA
Phone: (715) 387-0484
Fax: (715) 384-3661
Web:
http://www.preventiongenetics.com
Quest Diagnostics-Nichols Institute
Molecular Genetics Laboratory
Medical Director, Charles Strom, MD, PhD
33608 Ortega Highway
San Juan Capistrano, CA 92690
Contact: Joy Redman, MS, Genetic Counselor
Phone: (949) 728-4279
Fax: (949) 728-4874
Stanford Molecular Pathology Laboratory
Clinical Laboratory – Molecular Pathology
300 Pasteur Drive, Rm H1524
Stanford , CA 94305-5272
Phone: (650) 723-6574
Seattle Children's Hospital
Department of Laboratories
A-6901
4800 Sand Point Way NE
Seattle, WA 98105
Phone: (206) 987-2617
Fax: (206) 987-3840
Email:
LabClientServices@seattlechildrens.org
Summit Medical Group
Berkeley Heights Campus, Bensley Pavilion
1 Diamond Hill Road
Berkeley Heights, NJ 07922
Phone: (908) 277-8728
Niecee Singer Schonberger, MS, CGC –Genetic Counselor
University Children’s Genetics Laboratory, A Division of ProGene,
Inc.
116 E. Broadway Tel (818) 548-0999
Glendale, CA 91205
Phone: (818) 548-0999
Fax: (818) 548-1555
UCLA Diagnostic Molecular Pathology Laboratory
11633 San Vicente Blvd.,
Los Angeles, CA 90049
Phone: (310) 794-2781
Fax: (310) 794-2765
UC – San Diego Medical Genetics
University of California San Diego
Division of Medical Genetics (MC 0639)
9500 Gilman Dr.
La Jolla, CA 92093-0639
Phone: (858) 534-3093
Fax: (858) 534-0269
Email: tcahill@ucsd.edu
University of Maryland
Pediatric Biochemical Genetics Laboratory
22 S. Greene Street
Baltimore, MD 21201
Phone: (410) 706-3480 / appointments
Miriam G. Blitzer, Ph.D.
Professor and Chief, Division of Human Genetics
University of Pittsburgh/UPMC Genetics Education and Counseling
Program – Ashkenazi Jewish Outreach; Center for the Study and
Treatment of Jewish
Genetic Diseases
Pittsburgh, PA
Phone: (800) 640-GENE
Phone: (800) 334-7980
Web:
http://www.pitt.edu/~edugene/jewish.html
The Victor Center for Jewish Genetic Diseases
Albert Einstein Medical Center
5501 Old York Road, Levy 2 West
Philadelphia, PA 19141
Phone: (215) 456-8722
Victor Outreach and Screening Program for Ashkenazi Jewish Genetic
Diseases
Floating Hospital for Children at Tufts Medical Center
800 Washington Street, Box 340
Boston, MA 02111
Phone: (617) 636-7721
Web:
www.tuftsnemc.org/OurServices/SpecialServicesandCenters/JewishGeneticDiseasesScreening
Victor Center for Jewish Genetic Diseases at
University of Miami Miller School of Medicine
Address: Clinical Research Building
1120 NW 14th Street - 8th Floor
Miami, FL 33136
Phone: (305) 243-4524
Deborah Zimbalist Wasserman, M.S.
Genetic Counselor/Coordinator
Cellular: (786) 897-9587
Email:
DWasserman@med.miami.edu
ISRAEL
Assaf Harofeh Medical Center
Molecular Genetics Laboratory
Zerifin, Israel
Phone: (+972) 8-977-9617
Web:
http://www.assafh.org/ENG/index.asp
The Bnai Zion Medical Center
The Simon Winter Institute for Human Genetics,
47 Eliyahu Golomb
Haifa 33394, Israel
Phone: (+972)-4-835-9851, (+972)-4-835-9495
Web: http://www.b-zion.org.il
Carmel Medical Center
Molecular Genetics Laboratory
Michal Street
Haifa 34362, Israel
Phone: (+972) 4-8250407
Ha’Emek Medical Center
Molecular Genetics Unit
Afula 18101, Israel
Phone: (+972) 4-649-5416
Email:
morad_kh@clalit.org.il
Kaplan medical center, Molecular Genetics Laboratory
Rehovot, Israel
Phone: (+972) 8-944-1534
Web:
http://www.clalit.org.il/kaplan
Meir Medical Center
Molecular Genetics Laboratory
Kfar Saba, Israel
Phone: (+972) 9-747-1059
Web:
http://www.clalit.org.il/meir/Content/Content.asp
Pronto Diagnostic Ltd.
19A Habarzel Street
Ramat Hachayal
Tel Aviv 69710, Israel
Phone: (+972) 73-312-6155
Fax: (+972) 73-212-6144
Email:
info@prontodiagnostics.com
Rabin Medical Center
Molecular Genetics
Petah Tikva, Israel
Director: Mordechai Shohat, MD
Genetic Counselor: Inbal Kedar, MSc
Phone: (+972) 3-937-7659
Fax: (+972) 3-937-7660
Email: inbalkd@clalit.org.il
Rambam Medical Center, Molecular Genetics Laboratory
PO Box 9602
Haifa 31096 Israel
Phone: (+972) 4-854-2456
Shaare Zedek Medical Center
Medical Genetics Institute
Jerusalem, Israel
Phone: (+972) 2-666-6435
Fax: (+972) 2-666-6935
Director: Prof. Ephrat Levy-Lahad
Email: liorab@szmc.org.il
Sheba Medical Center
The Danek Gertner Institute Human Genetics
Molecular diagnosis Laboratory
Tel Hashomer; Ramat Gan . 52621, Israel
Phone: (+972) 3-530-3060
Web: http://www.eng.sheba.co.il
Soroka University Medical Center
Genetics Laboratories
Beer-Sheva, Israel
Phone: (+972)- 8-6400258
Web:
http://www.clalit.org.il/soroka/Content/Content.asp?CID=43&u=420
Tel Aviv Sourasky Medical Center
Genetic Lab
Sourasky Builidng
1st Floor, Wing 1
Tel Aviv, Israel
Phone: (+972) 3-697-4704
Phone: (+972) 3-697-3992
Fax: (+972) 3-697-4555
Web: http://www.tasmc.org.il
Western Galilee Hospital-Naharia
Molecular Genetics Laboratory
P.O.Box 21
Naharia 2100 Israel
CANADA
Genetrack Biolabs Inc.
Molecular Genetics Laboratory
Vancouver, British Columbia, Canada
Contact: Kevin Chu
Phone: (604) 325-7282
Fax: (604) 325-2208
Email:
kevin@genetrack.bc.ca
The Hospital for Sick Children
Molecular Genetics Division
555 University Avenue
Room 3420, Hill Wing
Toronto, ON M5G 1X8 Canada
Phone: (416) 813-7200 ext. 1
Fax: (416) 813-7732
Molecular Genetics Laboratory
Montreal Children's Hospital
2300 Tupper Street
Room A-718
Montreal, Quebec, H3H 1P3
Procrea
Division of Opmedic Group Inc.
1361 Beaumont Avenue
Suite 301
Mont-Royal (Quebec)
H3P 2W3
Phone: (514) 345-8535
Toll Free: (888) PROCREA
Contact: France Lagace
Phone: (514) 345-8535 ext 2234
Fax: (514) 345-8978
Email: flagace@procrea.com
EUROPE
• Germany
GERMANY
Bio.logis Center for Human Genetics
Frankfurt, Germany
Genetic Counselor: Prof Daniela Steinberger, MD, PhD
Phone: (+49) 6953-084-37
Fax: (+49) 6953 084-37-11
Email:
Daniela.steinberger@bio.logis.de
Centogene GmbH
Schillingalee 68
18057 Rostock
Germany
Phone: (+49) 381-203652-0
Fax: (+49) 381-203652-19
Email:
office@centogene.com
Diagenom GmbH
Robert-Koch-Str. 10
D-18059 Rostock
Germany
Phone: (+49) 381 7022750
Fax: (+49) 381 7022759
Email: mail@diagenom.de
Resources and More
National Tay-Sachs & Allied Diseases Association
2001 Beacon Street, Suite 204
Boston, MA 02135
Toll Free: (800) 906-8723
Phone: (617) 277-4463
Fax: (617) 277-0134
Web: http://www.ntsad.org
Tay-Sachs Prevention Program
Thomas Jefferson University
1100 Walnut Street, 4th Floor
Philadelphia, PA 19107
Phone: (215) 955-8320
Late-Onset Tay-Sachs Foundation (LOTS)
1303 Paper Mill Road
Erdenheim, PA 19038
Toll Free: (800) 672-2022
Phone: (215) 836-9426
Web: http://www.lotsf.org
Center for the Study and Treatment of Jewish Genetic Diseases
at UPMC Health Systems
Community Tay-Sachs Screening Program
Toll Free: (800) 334-7980
Email: edugene@pitt.edu
National Foundation for Jewish Genetic Diseases Inc.
250 Park Avenue, Suite 1000
New York, NY 10017
Phone: (212) 371-1030
Support Groups
Genetic Alliance, Inc.
4301 Connecticut Ave. NW, Suite 404
Washington, DC 20008
Phone: (202) 966-5557
Web:
http://www.geneticalliance.org
MD Junction
Web:
http://www.mdjunction.com/tay-sachs-disease
Genetic Diseases:Tay Sachs & Ashkenazi Jews Yahoo Group
Web:
http://health.groups.yahoo.com/group/tay-sachs/?tab=s
Daily Strength Tay-Sachs Disease Support Group
Web:
http://www.dailystrength.org/c/Tay-Sachs-Disease/support-group
Madisons Foundation
P.O. Box 241956
Los Angeles, CA 90024
Phone: (310) 264-0826
Fax: (310) 264-4766
Email:
getinfo@madisonsfoundation.org
Web:
http://www.madisonsfoundation.org
MUMS National Parent to Parent Network
150 Custer Court
Green Bay, WI 54301
Toll Free: (877) 336-5333
Phone: (920) 336-5333
Fax: (920) 339-0995
Email: mums@netnet.net
Web: http://www.netnet.net/mums
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