Know Your Genes
Why it’s important to have found the gene changes that cause CdLS:
- To help confirm diagnosis (although gene changes are not present in all patients).
- To offer reassurance, through genetic testing, that other family members are not affected.
- To provide accurate information and counseling resources for future pregnancies.
- To understand the role(s) the gene changes play in development.
- To improve existing therapies and design new ones.
- To generate interest about the syndrome in the medical/scientific research community.
Genetic testing for CdLS is offered through the following labs:
Children’s Hospital of Philadelphia
(Research Lab currently providing testing to individuals whose previous blood test(s) didn’t show changes in any identified genes, and for families with multiple cases of CdLS)
Sarah Noon, Genetic Counselor
3615 Civic Center Blvd.
Philadelphia, PA 19104
Phone: (215) 590‐4248
Fax: (215) 590‐3850
University of Chicago Genetic Services Laboratories
Maria Helgeson, MS, CGC
Certified Genetic Counselor
University of Chicago
5841 S Maryland Ave., MC 0077
Chicago, IL 60637
Toll Free: (888) UC‐GENES
Local: (773) 834-0555
Fax: (773) 834‐0556
CLIA #: 14D0917593
CAP #: 18827‐49
Courtagen can test for all five known CdLS genes as part of it neurodevelopment disorder panel. Financial assistance is available to qualified families.
12 Gill Street, Suite 3700
Woburn, MA 01801
Prevention Genetics offers testing for all five genes, separately or in an eight-gene panel.
3800 South Business Park Ave.
Marshfield, WI 54449
Greenwood Genetic Center
106 Gregor Mendel Circle
Greenwood, SC 29646
Robin Fletcher, MS, CGC
Fax : 864 941-8133