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In 2003 we identified KIF21A as being the causative gene for CFEOM1. As a consequence of this it is now possible for individuals with this disorder to have their DNA tested to determine whether they carry a mutation within this gene.
GENERAL QUESTIONS
Does a genetic test for CFEOM1 exist?
The gene that causes CFEOM1 has been identified and a number of genetic mutations (mistakes in the gene) have been found in people who have this condition. A genetic test is now available at the DNA Diagnostic Laboratory at Children's Hospital Boston.
If I previously enrolled in the Engle Laboratory's genetic research study of CFEOM1 can I now receive their testing results?
As the Engle Lab is a research laboratory, we are not allowed to release any results of our genetic testing to the study participant. This is because the research procedures we use are not approved or standardized. We therefore arranged for the CLIA (Clinical Laboratory Improvement Amendments Act of 1988. CLIA is a federal regulatory program that monitors the quality of laboratory testing) approved laboratory based at Children's Hospital Boston to confirm mutations which have previously been identified by the Engle laboratory. The cost for this testing is $600 and is covered by most health insurance providers.
I did not previously enroll in the CFEOM1 genetic study but would like my DNA tested for possible mutations. Is this possible?
Yes, the DNA Diagnostic Testing laboratory will test your DNA for the 'hotspot' KIF21A exons (exon 8, 20 and 21) and if a mutation is identified will release the testing results to your physician who will convey the information to you. If a mutation is not identified and you have signed an Informed Consent form (below), the diagnostic laboratory will pass an aliquot of your DNA over to the Engle lab and they will screen your DNA for the other 35 KIF21A exons or candidate genes.
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