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.
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 http://www.genetests.org/query?testid=2415
GeneDx, Inc. is now offering molecular diagnostic testing for Coffin-Lowry syndrome. The links below include an information sheet about the test, a consent document, sample submission form, payment option form, and instructions for collecting either a blood sample or cheek swab. GeneDx will supply cheek swab collection kits at no charge upon request.
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
e-mail sherrib@genedx.com
http://www.genedx.com
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Information Sheet Consent Form Sample Submission Form Payment Options
Blood Sample Instructions Cheek Swab Instructions
Genetic Testing in Coffin-Lowry Syndrome: Your questions answered Article by Cheryl Scacheri, MS, CGC, Director of Genetic Counseling Services, GeneDx, Inc., Gaithersburg, MD
Boston University School of Medicine
Boston, MA
Aubrey Milunsky, MD, DSc
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Greenwood Genetic Center
1 Gregor Mendel Circle, Greenwood, SC 29646
864-941-8100; 888-GGC-GENE (442-4363)
Full information available at http://www.ggc.org/Diagnostics/Molecular/Coffin-Lowry.htm
Click here for a requisition form.
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GENDIA is an international network of diagnostic genetic labs (GENDIA stands for GENetic DIAgnostics) that offers diagnostic genetic tests for CLS. The GENDIA network was formed to facilitate access to genetic tests, as in many countries genetic tests for genetic diseases are still difficult to obtain. This certainly applies to CLS as a genetic diagnostic test for this disorder is not widely available in many countries.
Nevertheless, CLS is one of the genetic diseases for which genetic testing is very valuable because most CLS patients have a mutation in the CLS gene RSK2.GENDIA now offers mutation analysis of the CLS gene RSK2 at 630 EURO (750 USD) in the proband.
Once the mutation is found in the proband , family members can be screened for this mutation at 150 Euro (180 USD).
GENDIA now decided to give 5 % of the costs of all diagnostic genetic tests to the specific patient organisation that referred the patient.GENDIA geneticists will also be available for counseling of the patients and their families if there is nobody available locally.
Over the past months GENDIA has informed many geneticists about its services, and now GENDIA wants to inform patient - and parent organizations such as the CLSF. The families facing CLS are nowadays well organized in patient networks defending their own rights, and we realize that these organizations form an ideal platform to inform patients about these new diagnostic possibilities and even organize diagnostic testing in those cases where it is not available locally.
GENDIA - Genetic Diagnostic Network
Terbekehofdreef 20
B-2610 Antwerp
Belgium
Phone: + 32 3 877 28 17
Fax: +32 3 877 29 57
E-Mail: info@GENDIA.net
Medizinisch Genetisches Zentrum
Munich, Germany
Elke Holinski-Feder, MD
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Sistemas Genomicos
Paterna, Valencia, Spain
Javier Garcia-Planells, PhD
Molecular Genetics Laboratory
Northern Genetics Service
Institute of Human Genetics
Central Parkway
Newcastle upon Tyne
NE1 3BZ
Telephone 0191-241-8775
0191-241-8754
Fax 0191-241-8799
Dr. Andre Hanauer, Strasbourg, France, was conducting linkage analysis free of charge to families while he was doing research on the gene(s) that cause Coffin-Lowry syndrome. The funds to support this free testing are no longer available.
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.
Ribosomal S6 kinase enzyme assay
Performed on cultured fibroblasts or transformed lymphoblasts Available on a clinical basis in males Not as useful in females due to broad range of enzyme activity resulting from X-chromosome inactivation Molecular Genetic Testing
Uses of testing
Confirmatory diagnostic testing Carrier testing Prenatal diagnosis Test Methods
Mutation Scanning
SSCP analysis (followed by squencing of abnormal exons) Available on a clinical basis In CLS patients, mutations were identified in 34% who had a clinical diagnosis A negative study does not rule out the diagnosis of CLS protein truncation testing
~60% of 71 mutations idenitifed caused protein truncation western blot then sequencing of variants performed on cultured lymphoblasts Is available clinically for affected males Linkage Analysis
For families in which direct testing has not identified a mutation Assesses probability that at-risk individuals have inherited a familial mutation
acurracy dependent on accurracy of clinical diagnosis of CLS and informativeness of genetic markers in the family samples are required from multiple family members to perform analysis
