Genetic Testing Centers

Genetic Testing Services

There are several labs in the US that can test for the PHOX2B gene mutation. Below is partial list of testing centers in the US, Canada, Europe and Japan.

Testing Benefits and Implications

The American Thoracic Society has published a clinical policy statement regarding PHOX2B genetic testing in those suspected to have CCHS, as well as in their at-risk relatives.

Benefits of Genetic Testing Include:

Direct impact on prognosis/medical care/treatment/surveillance due to knowledge of the specific PHOX2B mutation a person has (because of the genotype-phenotype correlation in CCHS)
Diagnostic confirmation in patients suspected to have congenital or late-onset CCHS
Parental testing to rule out risk for late-onset symptoms
Screening to adjust medical management in at-risk relatives

U.S. Testing Centers

ALISA VIEJO

Ambry Genetics^®
15 Argonaut
Aliso Viejo, CA 92656
Phone: 949-900-5500
Fax: 949-900-5501

Temple City

Fulgent Diagnostics
4978 Santa Anita Ave, Suite 205
Temple City, CA 91780
Phone: 626-350-0537
Fax: 626-454-1667

Orange

Genetics Center
211 S. Main Street
Orange, CA 92868
Phone: 714-288-3500
Fax: 714-288-8525

San Francisco

Blueprint Genetics
1268 Missouri Street
San Francisco, CA 94107
Phone: 650-452-9340 Ext. 0
Fax: 650-446-7790

Atlanta

Emory University School of Medicine,
Emory Molecular Genetics Laboratory
12165 N Decatur Rd
Atlanta, GA 30033
Phone: 404-778-8499
Fax: 404-778-8559

ATLANTA

MNG Laboratories/Medical Neurogenetics
5424 Glenridge Dr. NE
Atlanta, GA 30342
Phone: 678-225-0222
Fax: 678-225-0212

CHICAGO

Lurie’s Children’s Hospital
(formerly Children’s Memorial Hospital)
HLA and Molecular Diagnostic Laboratories
2515 N. Clark Street
Deming Building, Room 5027
Chicago, IL 60614
Phone: 312-227-6130
Fax: 312-227-9456

CAMBRIDGE

Laboratory for Molecular Medicine,

Partners HealthCare Personalized Medicine
65 Landsdowne St.
Cambridge, MA 02139
Phone: 617-768-8500
Fax: 617-768-8513

MIDDLEFIELD

DDC Clinic Molecular Diagnostics Laboratory
14567 Madison Road
Middlefield, OH 44062
Phone: 440-632-5532
Fax: 440-632-1697

PHILADELPHIA

Children’s Hospital of Philadelphia (CHOP)
3615 Civic Center Blvd
Philadelphia, PA 19104
Phone: 267-426-1447
Fax: 215-590-2156

SALT LAKE CITY

ARUP Laboratories, Molecular Genetics Laboratory
500 Chipeta Way
Salt Lake City, UT 84108
Phone: 800-242-2787 x2141
Fax: 801-584-5052

MARSHFIELD

Prevention Genetics, Clinical DNA Testing and DNA Banking
3800 S. Business Park Ave.
Marshfield, WI 54449
Phone: 715-387-0484
Fax: 715-384-3661

International Testing Centers

Alberta

CEN4GEN Institute for Genomics and Molecular Diagnostics
6756 75 Street NW
Edmonton, AB T6E 6T9
Canada
Phone: 1-844-236-4436
Fax: 1-587-329-9566

HELSINKI

Blueprint Genetics
Tukholmankatu 8, Biomedicum 2U
Helsinki 00290
Finland
Phone: US +1-650-452-9340
Fax: US +1-650-636-9779

Paris

Medical Genetics
Prof. Dr. Arnold Munnich
Hôpital Necker – Enfants Malades
149 Rue de Sèvres
75015 Paris, France
Phone: 01-44-49-40-00

Berlin

Max Planck Institute for Molecular Genetics
Unversitatsklinikum Charite
Ihnestraße 63-73
14195 Berlin, Germany
Phone: +49-30-8413-1449
Fax: +49-30-8413-1207

GENOA

Laboratory of Molecular Genetics, IRCCS
Prof. Dr. Isabella Ceccherini; Prof. Dr. Tiziana Bachetti
Giannina Gaslini Institute
Via Gerolamo Gaslini, 5
16148 Genoa, Italy
Phone: +39-010-56361

YAMAGATA

Yamagata University School of Medicine
Kiyoshi Hayasaka, MD, PhD; Ayako Sasaki, MD, PhD
Department of Pediatrics
2-2-2 Iida-nishi
Yamagata 990-9585, Japan
Phone: +81-23-633-1122

PORTO

CGC Genetics
Rua Sá da Bandeira, 706
Porto 4000-432
Porto, Portugal
Phone: +351223389900
Fax: +351222088710

BARCELONA

Reference Laboratory Genetics
Pablo Iglesias, 57-59
L´Hospitalet de Llobregat
Barcelona
08740 Barcelona, Spain
Phone: +34-932593700
E-mail: genetics@referencelaboratory.es

STOCKHOLM

Research Group for Malformation Genetics,
Department of Molecular Medicine and Surgery
Karolinska University Hospital, Solna,
SE-171 76 Stockholm, Sweden
Phone: +46-8-517-777-05
E-mail: agneta.nordenskjold@karolinska.se