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Home Page > Diseases by Region: Ashkenazi > Cystic Fibrosis

Cystic Fiborosis
by Yael Rosenberg, RN

Description
Cystic Fibrosis is an autosomal recessive genetic disease that is the result of mutation of the CFTR gene located on chromosome 7. This condition causes problems with breathing and digestion. The majority of people stricken with Cystic Fibrosis are diagnosed in childhood. The disease affects the respiratory and digestive systems, with the lungs and the pancreas secreting thick mucus which blocks their function. Average survival is approximately 30 years.

Symptoms
   •   Chronic cough
   •   Wheezing
   •   Nasal polyps
   •   Excessive production of mucus
   •   Frequent pneumonia
   •   Foul smelling, clay color, pale, floating stools
   •   Salty sweat and skin
   •   Clubbing of the fingers and toes
   •   Easily fatigued
   •   Enlarged spleen
   •   Weight loss
   •   Delayed growth
   •   Men with Cystic Fibrosis are usually infertile.

Average survival is approximately 30 years.

Incidence and Carriers
Cystic Fibrosis affects approximately 30,000 children and young adults in the US. Cystic Fibrosis may occur in any nationality or ethnic group. One in twenty five Caucasians in the United States is a carrier. One in twenty nine Ashkenazi Jews is a carrier. This carrier frequency makes Cystic Fibrosis about as common in Ashkenazi Jews as Tay-Sachs Disease. Actually Ashkenazi Jews are at a lower risk of being carriers than any other ethnic population.

Treatment
   •  Medications: Antibiotics for infections, pancreatic enzymes (occasionally mucomyst is used to thin secretions)
   •  Ibuprofen – This painkiller has been shown on studies to slow lung deterioration in children ages five to thirteen.
   •  Breathing Treatments: Percussions, and postural drainage.
   •  Lung Transplant: May be an option in some cases
   •  Genetic Research - Clinical Trials are now being conducted on inhalation therapies and gene transfer therapy.

Testing
Diagnosis : Sweat test is the most common test for CF. It measures the amount of salt in the sweat.

Immunoreactive Trypsinogen Test (IRT) is used for newborns who do not produce enough sweat for the sweat test. In the IRT test, blood drawn 2 to 3 days after birth is analyzed for a specific protein called trypsinogen. Positive IRT tests must be confirmed by sweat and other tests.

Chest X rays, lung function tests, sputum (phlegm) cultures, and stool examinations to help identify typical digestive abnormalities. 
 
Carrier screening and DNA analysis are used to detect the CF gene mutations (able to detect about 97% of Ashkenazi gene mutations). - To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent.

Laboratories and Screeningg
The following laboratories offer genetic testing for Congenital Amegakaryocytic Thrombocytopenias:

   •  United States
   •  Israel
   •  Canada
   •  Europe
   •  South America: Argentina
   •  South Korea

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

City of Hope
Molecular Diagnostic Laboratory
1500 East Duarte Road
Northwest Building - Second Floor, Room 2236
Duarte, CA 91010
Phone: (888) 8COH-DNA (888-826-4362)
Fax: (626) 301-8142
Email: mdl@coh.org 

CytoGenX
1212 Rte 25A
Stony Brook, NY 11790
Phone: (888) GENE-MED

Dayton Children’s Medical Center
Molecular and Biochemical Genetics Laboratory
One Children's Plaza
Dayton , OH 45404
Phone: (937) 641-3000
Toll-free: (800) 228-4055
Contact: Leslie A Willis, BS, MB(ASCP)
Email: willisl@childrensdayton.org
Phone: (937) 641-3262
Fax: (937) 641-5872

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 fax)

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) 837-5222
Phone: (718) 837-LAB2
Fax: (718) 259-0088
Outside 718 area code Call (800) 98-MODERN
Email address moderndiag@gmail.com

Biochemical Genetics Laboratory
Duke University Hospital
801 Capitola Drive, Suite 6
Durham, NC 27713
Phone: (919) 549-0445
Fax: (919) 549-0709
***Laboratory can only accept contact from health care providers.

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

Genzyme Genetics General Inquiries:
Phone: (800) 357-5744
Fax: (508) 389-5549
Client Services - Reproductive Genetics
Phone: (800) 848-4436

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

Hartford Hospital
Newington, CT
Phone: (860) 545-3409
Fax: (860) 545-3733

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

HIBM Research Group
18341 Sherman Way, #201A
Reseda, CA 91335
Phone: (818) 789-1033

DNA Diagnostic Lab
CMSC 10-106
The Johns Hopkins Hospital
600 N. Wolfe Street
Baltimore, MD 21287-3916
Phone: (410) 955-0483

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

Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Toll free: (800) 533-1710
Phone: (507) 266-5700
Fax: (507) 284-4542

Mercy St. Vincent Medical Center
Cytogenetics and Molecular Genetics Laboratory
Toledo, OH
Phone: (419) 251-8202
Fax: (419) 251-7825
Email: gail_wenger@mhsnr.org

Michigan State University
Clinical Genetics Laboratory
East Lansing, MI
Phone: (517) 353-2032
Fax: (517) 432-3879

Molecular Pathology Laboratory
Molecular Pathology Laboratory Network, Inc.
250 East Broadway
Maryville, TN 37804
Phone: (865) 380-9746
Fax: (865) 380-9191
Toll free: (800) 932-2943
Email: npotter@mplnet.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

Nationwide Children's Hospital
Molecular Genetics Laboratory
Columbus, OH
Phone: (614) 722-2866
Fax: (614) 722-2887

New Jersey Medical School
Institute of Genomic Medicine
University Hospital
150 Bergen Street, F Level,
Room F342
Newark, NJ 07103
Phone: (973) 972-3170
Fax: (973) 972-0795

New York Presbyterian Hospital - Weill Cornell Medical Center
Molecular Pathology
New York, NY
Contact: John Sipley, PhD
Phone: (212) 746-1456
Fax: (212) 746-4546
Email: jos9015@nyp.org
***Laboratory can only accept contact from health care providers

NYU Medical Center Human Genetics Program
550 First Avenue, Room MSB 136,
New York, New York 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

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

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

UCLA Pathology Outreach Services
Room 1P-201 CHS
10833 Le Conte Avenue
Los Angeles, CA 90095-1732
Phone: (310) 206-3694
Fax: (310) 825-0285
Email: ODTC@mednet.ucla.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
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
Phone: (+972) 4-825-0407

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

Ha’Emek Medical Center
Molecular Genetics Unit
Afula 18101 , Israel
Phone: (+972) 4-6495416
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

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) 8-640-0258
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

Western Galilee Hospital-Naharia
Molecular Genetics Laboratory
P.O.Box 21
Naharia 2100 Israel

CANADA
Alberta Children's Hospital
Molecular Diagnostic Laboratory
Calgary, Alberta, Canada
Phone: (403) 955-7026
Fax: (403) 955-7624

BC Children's and BC Women's Hospitals
Molecular Genetics Laboratory
Vancouver, British Columbia, Canada
Phone: (604) 875-2852
Fax: (604) 875-2707
Email: moleculargenetics@cw.bc.ca

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
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

University of Alberta
Molecular Diagnostic Laboratory
Edmonton, Alberta, Canada
Phone: (780) 407-1434
Fax: (780) 407-1761


EUROPE
   •  Denmark
   •  Germany
   •  Portugal
   •  Sweden
   •  United Kingdom

DENMARK
Amplexa Genetics
Tolderlunvej 3B, 2
DL-5000 Odenske C, Denmark
Phone: (+45) 6-611-6628
Fax: (+45) 661-6678
Email: info@amplexa.com

GERMANY
bio.logis Center for Human Genetics
Frankfurt, Germany
Genetic Counselor: Prof Daniela Steinberger, MD, PhD
Phone: (+49) 69-530-8437
Fax: (+49) 69-530-8437-11
Email: Daniela.steinberger@bio.logis.de

Bioscientia GmbH
Center for Human Genetics
Ingelheim, Germany
Contact: Dr Nadine Bachmann
Phone: (+49) 6132-781-429
Fax: (+49) 6132-781-194
Email: nadine.bachmann@bioscientia.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) 381-702-2750
Fax: (+49) 381-702-2759
Email: mail@diagenom.de

Synlab MVZ Humane Genetik München GmbH
Lindwurmstraße 23
80337 München, Germany
Contact: Claudia Bayerl
Phone: (+49) 89-548-6290
Fax: (+49) 89-548-6292-43
Email: claudia.bayerl@synlab.com

Medical Genetics Center
Bayerstraße 3-5 (durch die Mathäser-Passage)
Eingang Schlosserstraße 6
80335 München
Phone: (+49) 89-309-0886-0
Fax: (+49) 89-309-0886-66
Email: info@mgz-muenchen.de

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

SWEDEN
Department of Clinical Genetics
Karolinska University Hospital, Solna
S-171 76 Stockholm
Phone: (+468) 517-700-00
Director: Magnus Nordenskjold, MD, PhD
Phone: (+468) 517-739-28
Fax: (+468) 327734
Email: magnus.nordenskjold@ki.se

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) 292-0742641
Fax: (+44) 292-0744059

GSTS Pathology
DNA Laboratory
London, United Kingdom
Director: Stephen Abbs, PhD, FRCPath
Phone: (+44) 207-1882582
Fax: (+44) 207-1887273
Email: stephen.abbs@gsts.com

Northwick Park and St. Mark's Hospitals
Kennedy-Galton Centre - NW Thames Regional Genetics Service
Harrow, United Kingdom
Director: Stewart Payne, DipRCPath
Phone: (+44) 208-8693180
Fax: (+44) 208-8693106
Email: stewart.payne@nwlh.nhs.uk

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) 114-2252139
Fax: (+91) 114-2251034
Email: renu@saxena.com

SOUTH KOREA
Samsung Laboratory of Medicine
50, Irwon - Dong, Gangnam - Gu,
SEOUL , KOREA 135 - 230
Phone: (82) 2 - 3410-6469
Fax: (82) 2-3410-0022
Email: samsunglab.smc@samsung.com
Web: http://www.samsunglab.org 


Resources and More
Cystic Fibrosis Foundation
6931 Arlington Rd.
Bethesda, MD 20814
Toll Free: (800) FIGHTCF
Phone: (301) 951-4422
Fax: (301) 951-6378

For adult cystic fibrosis treatment
Presbyterian Medical Center
51 N. 39th Street
1st Floor, Philadelphia Heart Institute Building
Philadelphia, PA 19104


Support Groups
International Cystic Fibrosis Support Group http://cf.conncoll.edu/index1.html
CF Living (Genetec Inc.)
Web: http://www.cfliving.com

Liv for a Cure Foundation
P.O. Box 506
Libertyville, IL 60048
 

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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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