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Diagnostic testing
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.

What do I need to do now to undergo diagnostic testing?
Print off the DNA diagnostic testing sheet and take it to your physician. He/she will request the testing on your behalf. The form should then be sent with a purple capped (EDTA) tube of blood to the facility:
DNA Diagnostic Lab [CLIA #:22D0001844]
Attention: Lab Control
300 Longwood Ave, Farley 7
Boston, MA 02115
Phone: 617-355-7582
Fax: 617-730-0338

or mailed directly to Caroline Andrews.

FORMS FOR DIAGNOSTIC TESTING:
DNA Diagnostic Testing form
Engle Lab Informed Consent form if no mutations detected by Diagnostic lab
Is Diagnostic testing available for any of the other eye disorders for which the Engle Lab has identified causative mutations?
Diagnostic testing is also available by the Children's Hospital Boston CLIA approved diagnostic testing laboratory to confirm mutations in other disease genes: PHOX2A for CFEOM2, SALL4 for Okihiro syndrome and ROBO3 for Horizontal Gaze palsy with progressive scoliosis, all of which have been identified by our laboratory. If you have previously enrolled in a genetic study through the Engle Laboratory and would like mutation analysis of your DNA sample to be undertaken for the SALL4, ROBO3 or PHOX2A genes please contact Caroline Andrews who can assist you with this.
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