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.
ARC 1012
Philadelphia, PA 19104

Phone: (215) 590‐4248
Fax: (215) 590‐3850

Visit CHOP’s web page
Download CHOP’s Center for Cornelia de Lange Syndrome and Related Diagnoses brochure

University of Chicago Genetic Services Laboratories

(Clinical Lab)

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

Visit the University of Chicago’s web page



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

Phone: 877.395.7608
Fax: 617.892.7191



CdLS Testing Information

207 Perry Parkway
Gaithersburg, MD 20877

Phone: 301-519-2100
Fax: 301-519-2892


Please note: individuals on medical assistance/medicare may not qualify for testing for Courtagen and GeneDx.


Emory Genetics Laboratory

Emory Genetics Laboratory offers testing for all five genes, separately or in a five-gene panel.

CdLS Testing Information 

2165 North Decatur Road
Decatur, GA 30033

Phone: 855-831-7447
Fax: 404-778-8559


Prevention Genetics

Prevention Genetics offers testing for all five genes, separately or in an eight-gene panel.

3800 South Business Park Ave.
Marshfield, WI 54449

Phone: 715-387-0484
Fax: 715-384-3661


Greenwood Genetic Center

106 Gregor Mendel Circle
Greenwood, SC 29646

Robin Fletcher, MS, CGC
Genetic Counselor


Office: 864-388-1055
Fax : 864 941-8133

Ambry Genetics

CdLS Testing Information

15 Argonaut
Aliso Viejo, CA 92656

Phone: 949-900-5500
Fax : 949-900-5501