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California
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Pacific Fertility Center 55 Francisco Street, Suite 500 San Francisco, CA 94133 Director: Carolyn Givens, MD, Co-Director of Bay Area Pre-implantation Genetic Diagosis Pgm. & Director of PFC Contact: New Patient Guides Phone: 888-834-3095 E-mail: info@pacificfertility.com Tests: Carrier , Preimplantation Genetic Diagnosis Website: http://www.pacificfertility.com Notes: PFC can do PGD for any disease for which testing is available.
Quest Diagnostics Inc. 33608 Ortega Highway San Juan Capistrano, CA 92675 Director: Charles Strom, MD, PhD Contact: Joy B. Redman, MS Phone: 800-642-4657 X4279; FAX: 949-728-4874 E-mail: joy.b.redman@questdiagnostics.com Tests: Carrier , Prenatal , Diagnostic Notes: Testing is also available at this laboratory for 9 other JGD (Carrier, Prenatal & Diagnostic) and Tay-Sachs --DNA only.
UCLA Prenatal Diagnosis Center 300 Medical Plaza, Suite 3102 Los Angeles , CA 90095-6969 Director: Barbara Crandall, MD Contact: Jane Peredo, Sc.M. Phone: 310-825-0300 E-mail: jperedo@mednet.ucla.edu Tests: Carrier , Prenatal , Diagnostic Notes: Testing is available at this laboratory for 10 other Jewish genetic diseases -- Carrier, Prenatal and Diagnostic. Sends blood specimens for testing.
University Childrens Genetics Laboratory A Division of ProGene, Inc. 116 East Broadway Glendale, CA 91205 Director: Toni R. Prezant, PhD Contact: Toni R. Prezant, PhD Phone: (818) 548-0999 & FAX (818) 548-1555 E-mail: tprezant@progene.us Tests: Carrier , Prenatal , Diagnostic Notes: Carrier, Prenatal & Diagnostic testing available at this laboratory for 5 other Jewish Genetic Diseases. Canavan linkage testing for families w/2 or more affected children who don't have Ashkenazi Jewish mutations.
Connecticut
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Greenwich Hospital Genzyme Genetics 5 Perryridge Road Greenwich, CT 06830 Director: Carrie McKenna, Genetic Counselor Contact: Carrie McKenna, Genetic Counselor Phone: 203-863-3917 E-mail: carrie.mckenna@genzyme.com Tests: Carrier , Prenatal , Diagnostic Website: http://www.greenhosp.org Notes: Testing is available for 10 other Jewish Genetic Diseases.The Canavan test, as well as the other AJ tests (all except for TaySachs enzyme analysis) can be done on samples obtained with mouthwash through Genzyme Genetics. The genetic counseling at Greenwich is provided by Genzyme.
Florida
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Victor Center for Jewish Genetic Diseases/Leonard M. Miller School of Medicine Mailman Center for Child Development 1601 NW 12th Avenue Post Office Box 016820 (D-820), Miami, FL 33101 Miami, FL 33136 Contact: Deborah Z. Wasserman, MS Phone: (305)-243-4524 & (786)-987-9587 (c) FAX (305)-243-3919 E-mail: dwasserman@med.miami.edu
Georgia
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Emory Genetic Laboratory 2165 N. Decatur Road Atlanta, GA 30033 Director: Lora Bean, PhD., FACMG and Bradford Coffee, PhD, FACMG, Madhuri Hegde, PhD,FACMG. Contact: Alice K. Tanner, PhD, MS, CGC Linda Knight, MS, OGC Phone: (800)-366-1502 & FAX (404) 778-8559 E-mail: lab@genetics.emory.edu E-mail: lmknigh@emory.edu Tests: Carrier , Prenatal , Diagnostic Website: http://www.geneticslab.emory.edu Notes: Testing available for 8 other Jewish Genetic Diseases. Accepts extraced DNAaliva, blood, amniotic fluid and chorionic villi,
Illinois
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Childrens Memorial Hospital Division of Genetics, Birth Defects and Metabolism 2300 Children's Plaza, No. 59 Chicago, IL 60614-3394 Director: Joel Charrow, MD Contact: Michelle Gilats, MS Phone: (773)-880-4462, FAX (773)-929-9565 E-mail: mgilats@childrensmemorial.org Tests: Carrier , Diagnostic Notes: Carrier and Diagnostic tests available for 10 other Jewish Genetic Diseases. Children's is affiliated with the Chicago Center for Jewish Genetic Disorders.
Reproductive Genetics Institute 2825 N. Halstead Chicago, IL 60637 Director: Yury Verlinsky Contact: Genetics Counselors: Dana Pauling Christina Lavin Lama Eldahdah Phone: 773-472-4900, FAX 773-871-5221 E-mail: rgi@flash.net Tests: Preimplantation Genetic Diagnosis Website: http://www.reproductivegenetics.com Notes: Preimplantation Genetic Diagnosis for Canavan and other JGDs upon inquiry. Offers PGD for most single gene disorders as long as mutations have been identified. Accepts direct patient contact.
Maryland
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Kennedy Krieger Institute
Baltimore, MD 21205 Director: Richard I. Kelley, MD, PhD, Clinical Director Contact: Lisa Kratz, PhD, Laboratory Director E-mail: kratz@kennedykrieger.org Tests: Prenatal , Diagnostic Notes: Analyte testing for cases where DNA testing is not informative.
Massachusetts
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Boston University School of Medicine Center for Human Genetics 700 Albany Street, Suite W408 Boston, MA 02118 Director: Aubrey Milunsky, MD, DSc and Jeff Milunsky, MD Contact: Katherine Krepkovich, MS, MS Stephanie Newton, MS Phone: (617) 638-7083 & FAX (617) 638-7092 E-mail: krepko@bu.edu E-mail: snewton@bu.edu Tests: Carrier , Prenatal , Diagnostic Website: http://www.bumc.bu.edu/hg Notes: Carrier, Prenatal & Diagnostic testing available for 10 other JGDs. Arrangements for testing through a health professional is required. Our preferred sample would be 7-10cc of whole blood sent in a lavender (EDTA) tube at room temperature. CALL CENTER OR SEE WEBSITE (http://www.bumc.bu.edu/hg) FOR UPDATED INFORMATION.
Genzyme Genetics Molecular Diagnostic Laboratory* 3400 Computer Drive Westborough, MA 01581 Director: D. Alexa Sirko-Osadsa, PhD Contact: Jennifer Teicher, MS Phone: 800-255-7357; FAX 508-389-5549 E-mail: jennifer.teicher@genzyme.com Tests: Carrier , Prenatal , Diagnostic Website: http://www.genzymegenetics.com Notes: (Request a Genetic Counselor)
*Arrangements for testing through a health professional is required.
Testing is available at this laboratory for 10 other Jewish genetic diseases, Carrier, Prenatal and Diagnostic.
Massachusetts General Hospital Amino Acid Disorder/Neurochemistry Laboratory 55 Fruit Street Boston, MA 02114 Director: Vivian E. Shih, MD Contact: Roseann Mandell Phone: 617-726-3884 E-mail: rmandell@partners.org Tests: Diagnostic Notes: Diagnostic testing is also available for Maple Syrup Urine Disease MSUD
Michigan
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Detroit Medical Center University Laboratories Wayne State University School of Medicine Molecular Genetics Diagnostic Laboratory Harper Hospital -- Pathology -- 3990 John R Detroit, MI 48201 Director: Gerald L. Feldman, MD, PhD Phone: (313)745-2528 (Office), (313)993-2631 (Lab);FAX: (313)993-2658 E-mail: gfeldman@dmc.org Tests: Carrier , Prenatal , Diagnostic Notes: Testing is available at this laboratory for 9 other Jewish genetic diseases. Diagnostic & Prenatal testing is only performed for specific panel of mutations tested for in this laboratory and prenatal diagnosis would only be offered if tested-for mutuations are known to be present in the family.
Genesis Genetics Institute Genomics Center at Samaritan 5555 Conner Avenue, Suite 1100 Detroit, MI 48213 Director: Mark Hughes, Md, PhD Contact: Dorothy Twinney Phone: 313-579-9650 E-mail: counselor@genesisgenetics.org E-mail: dorothy.twinney@genesisgenetics.org Tests: Preimplantation Genetic Diagnosis Website: http://www.genesisgenetics.org Notes: Preimplantation Genetic Diagnosis for Canavan Disease and 10 other Jewish Genetic Disorders. Mutation(s) should be identified. Blood is acceptable for testing, but cheek swabbing is preferred.
Minnesota
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Mayo Clinic Division of Laboratory Genetics Biochemical Genetics Laboratory 200 First Street SW Rochester, MN 55905 Director: Dimitar Gavrilov, M, PhD Dietrich Matern, MD Kimiyo Raymond, MD Piero Rinaldo, MD, PhD, Silvia Tortorelli, MD, PhD, Devin Oglesbee, PhD , Elyse Grycki, MS, Gessi Bentz Pino, MS Contact: Genetic Counselors April Studinski, MS CGC Elizabeth Woolley, MS, CGC Phone: 800-533-1710 E-mail: biochemicalgenetics@mayo.edu Tests: Diagnostic Website: http://www.mayomedicallaboratories.com/ Notes: Arrangements for testing through a health professional is required.
Mayo Clinic - Hilton 9-970 Division of Laboratory Genetics Molecular Genetics Laboratory 200 First Street SW Rochester, MN 55905 Contact: Genetic Counselors Kara Mensink MS, CGC Kim Schahl,MS, CGC Brittany Thomas, MS,CGC Marie Schuetzle, MS, CGC Cheryl Thomas, MS Phone: 800-533-1710 E-mail: gcmolgen@mayo.edu Tests: Carrier , Prenatal , Diagnostic Notes: Testing is available at this laboratory for 8 other Jewish genetic diseases.
Send Samples to:
Mayo Medical Laboratories, Mayo Clinic Rochester
3050 Superior Drive, NW
Rochester,MN 55901
New Jersey
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UMDNJ New Jersey Medical School Center for Human & Molecular Genetics Molecular Genetics Laboratory 185 South Orange Avenue, MSB F-656 Newark, NJ 07103 Director: James Dermody, PhD Contact: Deanna L. Streck, MS Phone: 973-972-3170 E-mail: dermodjj@umdnj.edu E-mail: streckdl@umdnj.edu Tests: Carrier , Prenatal , Diagnostic Notes: Ashkenazi tests for Gaucher Disease, Fanconi Anemia Group C, Familial Dysautonomia, Nieman-Pick Disease, Tay-Sachs Disease, Blooms Syndrome, Canavan Disease & Mucolipidosis Type IV. Accepts saliva or buccal cell brushes.
New York
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Montefiore Medical Center Reproductive Genetics Division 1695 Eastchester Road, Suite 301 Bronx, NY 10461 Director: Susan Klugman, MD Contact: Catressa Johnson Phone: 718-405-8150 E-mail: sklugman@montefiore.org Tests: Carrier , Prenatal , Diagnostic , Preimplantation Genetic Diagnosis Notes: Testing for all 16 Jewish Genetic Diseases. We send them out(the most current 5 are done through Mt Sinai via Genzyme).
Mount Sinai Medical Center Genetics Testing Laboratory 1 Gustave L. Levy Place Box 1497 New York, NY 10029 Director: Dr. Ruth Kornreich Contact: Michelle Cahr, MS Phone: 212-241-6947 E-mail: Michelle.Cahr@mssm.edu Tests: Carrier , Prenatal Notes: Carrier and prenatal testing is available at this laboratory for 16 other Jewish genetic diseases. Diagnostic is also available for 8 mutations for Gaucher's Disease.
FAX: 212-860-3316
New York University Medical Center Human Genetics Program MSB 136 550 First Avenue New York, NY 10016 Contact: Carole Oddoux, PhD Phone: 212-263-7621 E-mail: oddouc01@MED.NYU.EDU Tests: Carrier , Prenatal , Diagnostic Notes: Testing is available at this laboratory for 12 other Jewish genetic diseases. Introduced saliva testing for certain circumstances. Individuals interested in this service should call the lab to determine if the testing they are interest in is covered by this format.
New York University School of Medicine Neurogenetics Laboratory Room #220 400 East 34th Street New York, NY 10016 Director: Co-Director Edwin H. Kolodny, MD Co-Director Gregory Pastores, MD Contact: Gregory Pastores, MD Paola A. Torres Phone: 212-263-6628 E-mail: gregory.pastores@med.nyu.edu E-mail: torrep04@med.nyu.edu Tests: Carrier , Prenatal , Diagnostic Notes: Testing is available at this laboratory for 2 other Jewish genetic diseases, Gaucer Disease Type 1 and Tay-Sachs Disease, Carrier, Prenatal, Diagnostic.
North Carolina
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Lab Corp. of America Center for Molecular Biology & Pathology 1912 T. W. Alexander Drive Research Triangle Park, NC 27709 Director: Kenneth J. Friedman, PhD Contact: Kenneth J. Friedman, PhD Phone: 919-361-7153 & Genetics Customer Service 1-800-345-GENE E-mail: friedmk@labcorp.com E-mail: genetics@labcorp.com Tests: Carrier , Prenatal , Diagnostic Notes: Testing is available at this laboratory for 11 other Jewish Genetic Diseases.
Oregon
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Oregon Health & Sciences University Biochemical Genetics Laboratory, DNA Diagnostic Lab 3181 SW Sam Jackson Park Road, MP-350 *See notes for Clinical Genetics Lab Address Portland, OR 97239 Director: Carolyn Sue Richards, PhD, & Professor, Molecular & Medical Genetics Cary O. Harding, MD, Asst. Prof. Molecular & Medical Genetics Richard Press, MD, PhD Assoc. Prof. Pathology Contact: Linda Nay, Adm. Assistant Phone: 503-494-4416;503-494-2401 (Linda Nay) E-mail: richarsu@ohsu.edu Tests: Carrier , Prenatal , Diagnostic Notes: FAX 503-494-6922 -- Tests for both Tay Sachs (carrier & diagnostic); and MSUD (diagnostic) are biochemical; and Cystic Fibrosis (carrier, prenatal & diagnostic) is DNA. *OHSU Clinical Genetics Labs 2525 SW 3rd Ave., MP 350,Portland, OR 97201
Pennsylvania
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Victor Centers for Jewish Genetic Diseases/Albert Einstein Medical Center 5501 Old York Road Levy 2 West Philadelphia, PA 19141 Director: Adele Schneider, MD, Clinical Genetics Contact: Shoshana Rosen, Outreach Coordinator Phone: (215) 456-7875 & FAX (215) 456-2356 E-mail: victorcenter@einstein.edu E-mail: Rosensh@einstein.edu Tests: Carrier , Prenatal , Diagnostic Website: http://www.victorcenters.org Notes: Carrier, Prenatal & Diagnostic testing available for 10 other Jewish Genetic Diseases in addition to Canavan Disease. They offer genetic counseling & screening for highly subsidized rates in Philadelphia, Boston, and Miami. Even further subsidized screenings available for students, newlyweds & engaged couples (1 year before or after wedding). The Victor Center provides various organizations with speakers & education programs & hosts free screenings & awareness campaigns at college campuses throughout the year. Please contact the Victor Center for information on locating screening resources & to learn how they can serve your organization.
Texas
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Baylor Medical Genetics Laboratories Baylor College of Medicine-NAB 2015 One Baylor Plaza Houston, TX 77030 Contact: Sandra Peacock, MS. Genetic Counselor Phone: 1-800-411-GENE E-mail: genetictest@bcm.tmc.edu Tests: Carrier , Diagnostic Website: http://www.bcmgeneticlabs.org Notes: Sample delivery:
Baylor DNA Diagnostic Lab
Medical Genetics Laboratories
Baylor College of Medicine
Grand Blvd. - Receiving Dock
2450 Holcombe Blvd.
Houston, TX 77021-2024. Please see website for test descriptions, requisition and consent forms, sample requirements, and billing and shipping information.
The Medical Genetics Laboratories at Baylor College of Medicine performs a DNA-based assay to screen for the 3 most common mutations associated with Canavan Disease in the Ashkenazi Jewish population: Y231Z, E285A & A305E. Diagnostic analysis & carrier testing is available as part of the CD or as part of the Ashkenazi Genetic Disease Screen, which includes testing for Tay-Sachs (TSC), Cystic Fibrosis (CF), Canavan (CD) & Familial Dysautonomia (FD), Arylsulfatase A Deficiency. Mucopolysaccharidosis Type I & II & Maple Syrup Urine Disease Type 3 are stand-alone tests and not offered as part of screening panels. Only blood samples are accepted for DNA sequencing unless there are special circumstances.
Washington
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Childrens Hospital Regional Medical Center Department of Laboratories - Mailstop B-6594 4800 Sand Point Way, NE Seattle, WA 98105 Director: Sihoun Hahn,MD, PhD Contact: Lisa Sniderman-King, Genetics Counselor Phone: 206-987-3012; 206-987-1406 (for Lisa Sniderman-King) E-mail: sihoun.hahn@seattlechildrens.org E-mail: Lisa Sniderman-King@seattlechildrens.org Tests: Carrier , Prenatal , Diagnostic Website: http://www.seattlechildrens.org/geneticslab Notes: Lab phone #206-987-3840.
Testing is available at this laboratory for 4 other Jewish genetic diseases: Cystic Fibrosis (Carrier & Diagnostic), Gaucher Type 1 & Tay Sachs (Carrier, Prenatal & Diagnostic), & Maple Syrup Urine Disease (Diagnostic).
International list Australia
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Genetic Health Services Victoria 10th Floor Royal Childrens Hospital Flemington Road Parkville, VIC 3052 Australia Director: Professor Agnes Bankier Contact: Associate Professor Martin Delatycki (Head of Ashkenazi Jewish Screening Program) Phone: +61 3 83416201 E-mail: martin.delatycki@ghsv.org.au Tests: Carrier , Prenatal , Diagnostic Website: http://www.genetichealthvic.net.au/ Notes: DNA Testing Laboratory offers DNA testing for the 2 common mutuations for Canavan disease present in the Ashenazi Jewish population plus Cystic Fibrosis, Tay Sachs, Familial Dysautonomia, Neiman Pick Type A, Bloom Syndrome & Fanconi Anaemia, using blood and cheek-brushing testing.
Laboratory & Community Genetics Level 5, Main Block, Pacific Laboratory Medicine Service (PaLMS) Royal North Shore Hospital St. Leonards, NSW 2065 Australia Director: Anne Proos, MSc, Scientific Phone: +612-9926-7784 E-mail: aproos@med.usyd.edu.au Tests: Carrier , Prenatal , Diagnostic Notes: Testing is available at this laboratory for 8 other Jewish genetic diseases - Carrier, Prenatal and Diagnostic. Acceptable specimen types are saliva, mouthwash, blood, CVS and amniotic fluid.
Canada
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Molecular Diagnostic Laboratory Alberta Children 2888 Shaganappi Trail NW Calgary , AB T3B 6A8 Canada Director: Peter Bridge, PhD, FCCMG, FACMG and Asst. Director Jillian S. Parboosingh, PhD, FCCMG Contact: Genetic Counselor associated with the lab Phone: (403) 955-7026 and FAX (403) 955-7624 E-mail: peter.bridge@calgaryhealthregion.ca E-mail: Jillian.parboosingh@ccalgaryhealthregion.ca Tests: Carrier , Prenatal , Diagnostic Notes: Testing available for Cystic Fibrosis, but not simply for Jewish ancestry. Accepts a saliva sample. All requests for testing must come from a physician who has appropriately counseled the patient and will provide the results to the patient with any additional required counseling and medical management.
Montreal Children Biochemical Genetics Laboratory 2300 Tupper Street, Rm. A-717 Montreal, H3H 1P3 Canada Director: Dr. John Mitchell Contact: Dr. John Mitchell, Gillaume Sillon (Genetic Counsellor) Phone: 515-412-4427 -- FAX 514-412-4329 E-mail: john.mitchell@muhc.mcgill.ca Tests: Carrier , Prenatal , Diagnostic Notes: Currently offering carrier testing for Tay-Sachs (via enzyme from serum or WBC and mutation analysis) and for Familial Dysautonomia via mutation analysis. For these diseases they do carrier screening, prenatal and diagostic testing.
The Hospital for Sick Children Room 3421 Roy C. Hill Wing 555 University Avenue Toronto, ON M5G 1X8 Canada Director: Peter N. Ray, PhD and Associate Director Tracy Stockley, PhD Contact: Leslie Steele, MSc Phone: 416-813-7200 x1 E-mail: leslie.steele@sickkids.ca Tests: Carrier , Prenatal , Diagnostic Notes: Testing is available at this laboratory for 7 other Jewish genetic diseases -- carrier, prenatal and diagnostic.
France
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Service de Maladies Hereditaires du Metabolisme Centre de Biologie Est - Groupement Hospitalier Est 59 Boulevard Pinel 69677 BRON Cedex France Director: Dr. Christine Vianey-Saban Contact: Dr. Cecile Acquaviva Phone: 33 4 72 12 96 91 - FAX 33 4 72 12 97 20 E-mail: cecile.acquaviva-bourdain@chu-lyon.fr E-mail: christine.saban@chu-lyon.fr Tests: Carrier , Prenatal , Diagnostic Notes: For Diagnosis: Metabolites and molecular.
For Prenatal and Carrier: Molecular genetics only. Diagnosis on DNA isolated from blood.
Germany
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DelphiTest GmbH Unterden Schwbbogen 23, D-93047 Regensburg, Germany Director: Frank Th. Pfannenschmid, PhD Phone: 0049 941/2986615 FAX 0049 941/6963846 E-mail: info@morbus-canavan.com Tests: Carrier Website: http://www.morbus-canavan.com Notes: Offers DNA saliva test with buccal swabs.
Israel
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Genetic Institute Soroka University Medical Center Ben-Gurion University of the Negev Beer-Sheva Israel Director: Ohad Birk, MD Contact: Ms. Anat Mishori-Dery Phone: 972-7-640-0907 E-mail: anatmid@clalit.org.il Tests: Carrier , Prenatal , Diagnostic Notes: Testing is available at this laboratory for 6 other Jewish genetic diseases.
CALL CENTER FOR UPDATED INFORMATION.
Genetic Institute Tel-Aviv Sourasky Medical Center 6 Weizmann Street Tel-Aviv, 64239 Israel Director: Avi Orr-Urtreger, MD, PhD Contact: Dr. Ruth Shomrat Phone: 972-3-697-4704 or 3922 E-mail: aviorr@tasmc.health.gov.il Tests: Carrier , Prenatal , Diagnostic Notes: Testing is available at this laboratory for other common Jewish genetic diseases only in Israel.
CALL CENTER FOR UPDATED INFORMATION
Hadassah Medical Center Department of Human Genetics Jerusalem, 91120 Israel Contact: Dr. Israela Lerer Phone: 972-2-677-6016 -- FAX 972-2-6777-7499 E-mail: lereris@hadassah.org.il Tests: Carrier , Diagnostic , Preimplantation Genetic Diagnosis Notes: Testing is available at this laboratory for 12 other Ashkenazi Jewish genetic diseases as well as for Sepharadi disorders.
Shaare Zedek Medical Center Genetics PO Box 3235 Jerusalem, 91031 Israel Director: Prof. Ephrat Levy-Lahad Contact: Dr. Gheona Alterescu Phone: 972-2-6666435 E-mail: gheona@szmc.org.il Tests: Preimplantation Genetic Diagnosis Notes: Preimplantation for Canavan and any other genetic disorder when mutation is known or linkage is possible.
FAX: +972-2-6666935
Simon Winter Institute for Human Genetics The Bnai-Zion Medical Center Technion-Rappaport Faculty of Medicine PO Box 4940 Haifa, 31048 Israel Director: Zvi Borochowitz, MD, Prof. of Pediatrics & Medical Genetics Phone: 972-4-835-9459; FAX 972-4-810-0939 E-mail: mdzvi@technion.ac.il Tests: Carrier , Prenatal , Diagnostic Website: http://www.b-zion.org.il; http://www.goldenhour.co.il/genetic.counseling;http://md.technion.ac.il/inner/personnel.php?Lecturer_ID=88 Notes: Testing is available at this laboratory for 23 other Jewish genetic disorders -- including Moroccan, Iraqi, Libyan and Yemenite Jews -- Carrier, Diagnostic, Prenatal. Non- Ashkenazi diseases are also Preimplantation Genetic Diagnosis tested.
South Africa
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Division of Human Genetics, School of Pathology National Health Laboratory Service (NHLS) and University of the Witwatersrand, Corner De Korte & Hospital Streets Braamfontein, Gauteng, PO Box 1038 Johannesburg 2000, South Africa Director: Prof. A. Christianson, Department Head Contact: Dr. Amanda Krause, Clinical Dir. Phone: + 27-11-489-9219 E-mail: amanda.krause@nhls.ac.za Tests: Carrier , Prenatal , Diagnostic Notes: Testing is available for 10 other Jewish genetic diseases at this laboratory, Carrier, Prenatal & Diagnostic.
The Netherlands
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VU University Medical Center Metabolic Unit, 1 PK X009 Department of Clinical Chemistry Boelelaan 1117 1081 HV Amsterdam, The Netherlands Director: Cornelis Jakobs, PhD, Head, Metabolic Unit Contact: Gajja S. Salomons, PhD, Clinical Molecular Geneticist Phone: + 31-20-444-2914, secretary +31-20-444-2880, FAX +31-20-444-0305 E-mail: g.salomons@vumc.nl Tests: Carrier , Prenatal , Diagnostic Notes: Saliva or blood spots offered in very rare cases.
United Kingdom
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Doctors Laboratory, Genetics Lab TDL Genetics 60 Whitfield Street London, W1T 4EU United Kingdom Director: Dr. Lisa LeVett Contact: Dr. Stuart Liddle, Head ofMolecular Genetics Phone: +44(0)207 3077409, FAX +44(0)207 3077350 E-mail: CDSL@TDLPathology.com E-mail: lisa.levett@dtlpathology.com E-mail: stuart.liddle@tdlpathology.com Tests: Carrier Notes: Carrier screens available for 8 other Jewish Genetic Diseases: Tay Sachs, Familial Dysautonomia, Fanconi's Anaemia, Neimann Pick Disease, Glycogen Storage Disease, Blooms Syndrome, Mucolipidosis IV and Gauchers. Blood testing is preferred over saliva testing.
Genesis Genetics Europe Six Laurence Drive Nottingham, NG8 6PZ United Kingdom Director: Dr. Marcus Hughes Contact: Colleen Lynch, Embryologist & Molecular Geneticist Phone: +44-115-822-6169 FAX #+44(0)115 852 8196 E-mail: colleen.lynch@genesisgenetics.org Tests: Preimplantation Genetic Diagnosis Website: http://www.genesisgenetics.org Notes:
Preimplantation Genetic Diagnosis for Canavan Disease and 10 other Jewish Genetic Disorders. Mutation(s) should be identified. Almost exclusively collect DNA via buccal cheek swab kits rather than blood samples.
Molecular Genetics Laboratory, Northwest Thames Regional Clinical Genetics Services Kennedy-Galton Centre Northwick Park and St. Mark Hospitals Watford Road Harrow, HA1 3UJ United Kingdom Director: Stewart Payne Phone: +44-20-8869-3188 E-mail: stewart.payne@nwlh.nhs.uk Tests: Carrier , Prenatal , Diagnostic Notes: Testing is available at this laboratory for Cystic Fibrosis -- Carrier, Prenatal and Diagnostic.
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