Inventors:
Bassem A. Bejjani - Spokane WA, US
Blake Charles Ballif - Greenacres WA, US
Lisa G. Shaffer - Spokane WA, US
Assignee:
SIGNATURE GENOMICS LABORATORIES, LLC - Spokane WA
International Classification:
C40B 30/04, C40B 40/08, C12Q 1/68
Abstract:
Methods for diagnosing the presence or absence of a genetic disorder in a patient are provided, wherein the genetic disorder is associated with a chromosomal abnormality at 1q41q42 and/or 16p11.2p12.2, and wherein the genetic disorder is not Fryns syndrome or congenital diaphragmatic hernia (CDH). Materials, such as microarrays for use in microarray CGH, and kits for use in such methods are also provided.