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MECP2 Testing:
Diagnostic Labs

We now know that mutations in the MECP2 gene cause Rett Syndrome. Knowing the biological marker allows for a molecular diagnosis through blood tests and prenatal screenings which detect mutations in this gene. The following is a listing of laboratories that analzye MECP2 for mutations.

USA

DNA Diagnostic Testing Laboratory
Baylor College of Medicine
Tel: 713-798-6555
dnalab@bcm.tmc.edu
$950.00 - Direct Billing
$1090 - Third Party/Insurance Billing
$575 - Deletion Testing and Exon 1 analysis
$285 - Additional family testing
www.bcmgeneticlabs.org

Dr. Mike Friez
Greenwood Genetic Center
1 Gregor Mendel Center
Greenwood, SC 29646
Tel: 864-941-8130
friez@ggc.org
Website
MECP2 testing $750.00
X inactivation testing $250
both MECP2 and X inactivation $850

Iris L. Gonzalez, Ph.D.
Molecular Diagnostics Laboratory
AI duPont Hospital for Children
1600 Rockland Road
Wilmington, DE 19899
phone: 302-651-6779 / 6777
FAX:302-651-6881
e-mail: igonzale@nemours.org

Center for Human Genetics
Boston University School of Medicine
Tel: 617-638-7083
Fax: 617-638-7092
www.bumc.bu.edu/hg
Genetic Counselors/Main Contacts:
Carrie Haverty, M.S. and Susan Cheney, M.S., C.G.C.
$875 - Initial samply
$225 - Additional family testing
will bill directly, third party or private insurance

University of Chicago
Genetic Services Laboratories
5841 S. Maryland Avenue
Room L163, MC 0077
Chicago, IL 60637
Tel: 888-824-3637
ucgslabs@genetics.uchicago.edu
www.genes.uchicago.edu
$925 - Initial sample

$390 - Additional family member

Quest Diagnostics
Test available at any of the Quest labs
Test Code: 15088X
Cost: $1,100 (generally discounted for many insurance plans)

Athena Diagnostics
Website

Australia

New South Wales,
Queensland, Victoria, Tasmania

johnch@mail.usyd.edu.au

Western Australia,
South Australia, Northern Territory

hleonard@cyllene.uua.edu.au

Belgium

Gert.Matthijs@med.kuleuven.ac.be

Canada

pmacleod@caphealth.org

England

France