Genetic Testing

Microtia / Atresia with Kidney abnormalities or Neck cysts

The University of Michigan is currently accepting blood samples from children suspected to have BOR Syndrome with 2 out of 3 components plus a family history.

They are sequencing of the EYA1, SIX1, and SIX5 genes on an experimental basis. The consent, blood draw, and shipment to our lab will have to be done by a physician using the paper work at www.renalgenes.org ("Urinary tract malformations").

The researcher is:

Friedhelm Hildebrandt, MD
Professor of Pediatrics and of Human Genetics
Frederick G.L. Huetwell Professor for the Cure
and Prevention of Birth Defects
Doris Duke Distinguished Clinical Scientist

University of Michigan
Department of Pediatrics
8220C MSRB III
1150 West Medical Center Drive
Ann Arbor, MI 48109-0640, USA
phone: +1 (734) 615-7285 (office)
615-7895, -7896, 763-2406
647-9477, 764-6266 (labs)
fax: +1 (734) 615-1386, -7770