The Coffin-Lowry Syndrome Foundation

Genetic Testing

Should I have special genetic testing done for CLS?

Having a confirmed diagnosis may be comforting in that at least you know what you are dealing with and have some idea what to expect in the future. However, genetic testing for CLS is not always 100% conclusive. You may go through the expense of having the tests done and still not get a definitive answer. You should prepare yourself for the possibility of never knowing for sure.

Testing an unborn child carries risks to both the fetus and the mother. When considering intrauterine testing of an unborn child, consider how the test results will affect your plans for the pregnancy, and is the test worth the potential risk. Always consult a genetic counselor for advice with reproductive issues.

Does Insurance cover genetic testing?

In most cases, an individual will have to contact his or her insurance provider to see if genetic tests, which cost between $200 and $3000, are covered. Usually insurance companies do not cover genetic tests, those that do will have access to the results. Insured persons would need to decide whether they would want the insurance company to have this information. States have a patchwork of genetic-information nondiscrimination laws, none of them comprehensive. Existing state laws differ in coverage, protections afforded, and enforcement schemes. The National Conference of State Legislatures provides a listing of current legislation regarding genetic information and health insurance. The recent marketing of genetic test kits directly to consumers, may lead to an increase in demand for insurance coverage.

Where can I get genetic testing done?

A standard karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells and if often performed when there is some indication of an abnormality at birth. Although our chromosomes tell us a lot, they can't tell us everything. CLS cannot be identified in a standard karyotype. Make sure that the lab you are using is able to test for CLS. Notify CLSF if you know if any other resources for CLS testing.

Some of the information below is provided by

United States

Sherri J. Bale, Ph.D., F.A.C.M.G.
President and Clinical Director
GeneDx, Inc.
207 Perry Parkway
Gaithersburg, MD 20877
Phone:(301) 519-2100 (direct line - ext 102)
Fax: (301) 519-2892

Boston University School of Medicine
Center for Human Genetics
Boston, MA
Aubrey Milunsky, MD, DSc

Greenwood Genetic Center
1 Gregor Mendel Circle
Greenwood, SC 29646
864-941-8100; 888-GGC-GENE (442-4363)


GENDIA - Genetic Diagnostic Network
Terbekehofdreef 20
B-2610 Antwerp
Phone: 32 3 877 28 17
Fax: +32 3 877 29 57


Medizinisch Genetisches Zentrum
          Munich, Germany
          Elke Holinksi-Feder, MD

United Kingdom

Molecular Genetics Laboratory
Northern Genetics Service
Institute of Human Genetics
Central Parkway
Newcastle upon Tyne
Telephone 0191-241-8775
Fax 0191-241-8799


Sistemas Genomicos Medical Genetics Unit
Paterna, Valencia, Spain
Javier Garcia-Planells, PhD