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Home Page > Diseases by Region: Ashkenazi > Nonsyndromic Hearing Loss (DFNB1)

Nonsyndromic Hearing Loss (DFNB1)
by Yael Rosenberg, RN

Description
Nonsyndromic Hearing Loss is a congenital, autosomal recessive genetic disorder that is the result of mutation of the GJB2 gene located on chromosome 13. The GJB2 gene instructs the cell to make a protein commonly known as connexin 26 which is responsible for transporting Potassium ions and certain small molecules between cells. Connexin 26 is found primarily in the inner ear, which lead researchers to believe that this protein has a role in the hearing process.

This disorder can be mild to profound, is non progressive and is due to damage of the nerves originating in the cochlea that supply the inner ear. There are no other abnormal clinical findings associated with this genetic mutation.

Symptoms
Individuals with connexin-26 related deafness do not have any other medical issues and enjoy a normal life span. Infants and children affected by this disorder do not experience any problems with balance and start sitting and walking at the appropriate age.

Affected infants and young children do not experience balance problems and learn to sit and walk at age-appropriate times.

Incidence and Carriers
Disease frequency: 1 in 1,700 in Ashkenazi Jews, 1 in 7,000 for general population
Carrier frequency: 1 in 20 to 1 in 25 in Ashkenazi Jews, 1 in 35 in US Caucasian population.

Treatment
Treatment for nonsyndromic deafness includes utilization of hearing aids as well as vibrotactile devices. For children over the age of 12 months with severe to profound hearing loss, cochlear implantation might be considered an option.

Testing
Diagnosis: made by physical, audiological and inner ear examinations, family history and molecular genetic testing is included.

Screening for Nonsyndromic Deafness carriers requires molecular genetic testing for DNA mutations.

Laboratories and Screening
The following are laboratories offering genetic testing for Non-syndromic hearing loss (GJB2-Related DFNB 1):
   •  United States
   •  Israel
   •  Canada
   •  Europe
   •  India

UNITED STATES
ARUP Laboratories
500 Chipeta Way
Salt Lake City, UT 84108-1221
Phone: (800) 522-2787
Fax: (800) 522-2706
Email: clientservices@aruplab.com 

Athena Diagnostics Inc
Reference Lab
Worcester, MA
Phone: (800) 394-4493
Phone: (508) 756-2886 (Outside the US and Canada)
Fax: (508) 753-5601
Web: http://www.athenadiagnostics.com

Baylor Medical Genetic Laboratories
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

Center for Genetic Testing at Saint Francis
6161 S. Yale Avenue
Tulsa, OK 74136
Toll Free: (866) 846-0315
Phone: (918) 502-1720 (Main Office)
Fax: (918) 502-1723
Email: fvschaefer@saintfrancis.com

Children's Hospital Boston
DNA Diagnostic Lab
300 Longwood Ave. Farley 7
Boston, MA 02115
Phone: (617) 355-5317
Fax: (617) 730-0338

Children’s Hospital and Research Center, Oakland
Attn: Molecular Genetics
Bruce Lyon Research Building, Room 204
747 52nd Street, Oakland CA 94609
Phone: (510) 428-3623
Fax: (510) 450-5692

Cincinnati Children's Hospital Medical Center, Division of Human Genetics
3333 Burnet Avenue,
Cincinnati, Ohio 45229-3039
Phone: (513) 636-4474
Fax: (513) 636-4373
Email: moleculargenetics@cchmc.org)

Biochemical Genetics Laboratory
Duke University Hospital
801 Capitola Drive, Suite 6
Durham, NC 27713
Phone: (919) 549-0445
Fax: (919) 549-0709
Deeksha Bali, PhD – Director
Phone: (919) 684-0025
Deeksha.bali@duke.edu
Jennifer Sullivan-Saarela, MS, CGC –Genetic Counselor
Phone: (919) 681-1991
Email: Jennifer.sullivan@duke.edu 

Emory University School of Medicine
Emory Molecular Genetics Laboratory
Atlanta, GA
Phone: (404) 778-8500
Fax: (404) 778-8559
Email: eglgc@emory.edu

Greenwood Genetic Center
106 Gregor Mendel Circle
Greenwood, SC 29646
Phone: (800) 473-9411
Fax: (864) 941-8141

Harvard Medical School and Partners Healthcare
Laboratory for Molecular Medicine
Cambridge, MA
Phone: (617) 768-8500
Email: LMM@partners.org

LabCorp
1912 Alexander Drive
Research Triangle Park, NC 27709
Phone: (800) 345-4363
Fax: (919) 361-7798
Email: genetics@labcorp.com

Providence Sacred Heart Medical Center and Children's Hospital
Department of Laboratory Medicine/Molecular Diagnostic Division
101 W. 8th Ave.
Spokane, WA 99204
Director: Marcy L Hoffmann, PhD
Phone: (509) 474-6875
Fax: (509) 474-6876
Email: marcy.hoffmann@providence.org

Stanford Molecular Pathology Laboratory
Clinical Laboratory – Molecular Pathology
300 Pasteur Drive, Room H1524
Stanford , CA 94305-5272
Phone: (650) 723-6574

University Hospitals
The Center for Genetics Laboratory
10524 Euclid Avenue, 6th Floor
Cleveland, OH 44106
Phone: (216) 983-1134
Fax: (216) 983-1144
Web: http://www.chglab.com

University of Chicago
University of Chicago Genetic Services
Director: Soma Das, PhD
5841 South Maryland, Room G701/MC0077
Chicago, IL 60637
Toll Free: (888) UC-GENES or (888) 824-3637
Phone: (773) 834-0555
Fax: (312) 729-2808

ISRAEL
Carmel Medical Center
Molecular Genetics Laboratory
Michal Street
Haifa 34362
Phone: (+972) 4-8250407

Edith Wolfson Medical Center
Molecular Genetics Laboratory
Holon, Israel
Contact: Esther Leshinsky-Silver, PhD
Phone: (+972) 3- 502- 8692
Fax: (+972) 3- 502- 8543

GGA –Galil Genetic Analysis Ltd
P.O.B. 3664
Kazerin, Hatzafon, Israel 12900
Phone: (+972) 4-900-7100
Fax: (+972) 4-900-7111
Email: gga@gga.org.il 

Hadassah Hospital Hadassah Ein Karem
Human Molecular Genetic Laboratory
Dr. Israela (Issy) Lerer (Director)
POB 12000
Jerusalem 91120, Israel
Phone: (+972) 2- 677-6016
Fax : (+972) 2- 677-7499
Web: http://www.hadassah.org.il 

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 

Meuhedet Rosh Haayin
Molecular Genetics Laboratory.
Hey Beiyar 22
Rosh Haayin 48056 Israel
Phone: (+972) 3-915-5330
Fax: (+972) 3-915-5331
Web: https://www.meuhedet.co.il

Pronto Diagnostic Ltd.
19A Habarzel Street
Ramat Hachayal
Tel Aviv, Israel 69710
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
Telephone: (+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
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

IWK Health Centre
Molecular Diagnostic Laboratory
Halifax, Nova Scotia, Canada
Phone: (902) 470-8831
Fax: (902) 470-7466

Molecular Genetics Laboratory
Montreal Children's Hospital
2300 Tupper Street
Room A-718
Montreal, Quebec, H3H 1P3 

EUROPE
   •  Finland
   •  Germany
   •  Portugal
   •  Spain
   •  United Kingdom

Finland
HUSLAB Laboratory of Molecular Genetics
Obstetric Hospital
Haartmaninkatu 2, C-wing, 5th floor
FI-00029 Helsinki, Finland
Sample enquiries: (+358) 9-471 74339
Service enquiries: (+358) 9-471 75905
Fax: (+358) 9-471 74001
Contact persons:
Specialist in Medical genetics
Phone: (+358) 9-471 75905

GERMANY
Centogene GmbH
Schillingalee 68
18057 Rostock
Germany
Phone: (+49) 381-203652-0
Fax: (+49) 381-203652-19
Email: office@centogene.com

PORTUGAL
CGC Genetics / Centro de Genética Clínica S.A.
Rua Sá da Bandeira, 706 - 1º
4000-432 Porto
Portugal
Phone: (+351) 223 389 900
Fax: (+351) 222 088 710
EMail: dcc@cgcgenetics.com

SPAIN
IMEGEN (Instituto de Medicina Genómica, S.L.)
Science Park. University of Valencia
C/ Catedrático Agustín Escardino, 9
E46980 Paterna (Valencia)
SPAIN
Phone: (+34) 963 212 340
Fax: (+34) 963 212 341
Email: info@imegen.es

UNITED KINGDOM
All Wales Molecular Genetics Laboratory
Institute of Medical Genetics
University Hospital of Wales
Heath Park
Cardiff CF14 4XW
Contact: Sheila Palmer-Smith, DipRCPath
Phone: (+44) 2920 742641
Fax: (+44) 2920 744059

INDIA
ATS GeneTech Private Limited
1st Floor, Amogh Plaza, Greenlands, Hyderabad
Andhra Pradesh, INDIA - 500 016
Phone: (+91) 40-23400932
Fax: (+91) 40-23407943
Email: info@genetech.co.in 

Centre for Cellular and Molecular Biology
Molecular Diagnostics Division, Genome Research Group
Hyderabad, Andhra Pradesh, India
Phone: (+91) 40-27192549
Fax: (+91) 40-27160591
Email: nidan@ccmb.res.in 

Sir Ganga Ram Hospital
Center of Medical Genetics
New Delhi, Delhi, India
Contact: Renu Saxena, PhD
Phone: (+91) 11-42252139
Fax: (+91) 11-42251034
Email: renu@saxena.com


Resources and More
American Speech-Language-Hearing Association
10801 Rockville Pike
Rockville, MD 20852
Toll-free, voice or TTY: (800) 638-8255
Available 8:30 a.m.-5:00 p.m. ET
Email: actioncenter@asha.org 

The Connexin-deafness homepage
The Deafness Research Group
Web: http://www.crg.es/deafness


Support Groups
Alexander Graham Bell Association
for the Deaf and Hard of Hearing
3417 Volta Place, NW
Washington, DC 20007
Phone: (202) 337-5220
TTY: (202) 337-5221
Fax: (202) 337-8314
Email: info@agbell.org
Web: http://www.agbell.org

American Society for Deaf Children
3820 Hartzdale Drive
Camp Hill PA 17011
Phone: (800) 942-2732 (parent hotline); (717) 703-0073 (business V/TTY)
Fax: (717) 909-5599
Email: asdc@deafchildren.org 
Web: http://www.deafchildren.org
 

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Jewish Genetic Disorders: A Layman's Guide: Guide to genetic disorders affecting  the Jewish population more than the non-Jewish. Includes basic facts on genetics & genetic disorders.
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