Research

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Diagnostic genetic testing

As the Engle Lab is a research laboratory, we are not allowed to release genetic research results without confirmation in a federally approved DNA Diagnostic Laboratory. We have therefore arranged for the Boston Children's Hospital DNA Diagnostic Laboratory to provide genetic testing for the disorders identified in the Engle Lab, accompanied by genetic counseling.

To learn more about diagnostic testing for the disorders identified by the Engle Lab please contact: Caroline Andrews.

What will I need to do to undergo genetic testing?
Print off the requisition form (below) and take it to your physician. He/she can request the testing on your behalf. You will also need to provide 3-5cc of blood (to be placed in a lavendar capped-EDTA tube). Your physician may contact Caroline Andrews who can assist with coordination of the testing.

Confirmatory testing requisition form for completion by referring physician

Will I need to pay for genetic testing?
Yes, this testing is routinely covered by insurance but you may want to check with your insurance provider before undergoing testing.

If my insurance will not pay for genetic testing is there a way that I can have this testing covered free of charge?
Yes, if you are living within the United States there is a federally funded resource, eyeGENE available to you that provides accurate diagnostic genotyping to patients with inherited eye diseases. Please contact Caroline Andrews who can facilitate eyeGENE testing.

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