The primary intent of the Orphan Disease Testing Center (ODTC) at UCLA is to provide validated confirmation of mutations identified in research laboratories which can then be reported directly to physicians and patients who request such information for clinical decision-making. This service will be especially beneficial for individuals and families who have been identified as carrying a mutation by a research laboratory. We will confirm the mutation in a fresh sample (blood, saliva, or cheek swab) from the proband or other known carriers, such as the parents. After a mutation is confirmed, diagnostic, prenatal, and carrier testing will be available for other at-risk family members. Limited full-gene sequencing for certain genes is also available.
						Our laboratory is CLIA-certified and CAP-accredited, thereby ensuring compliance with governmental and professional regulations and quality assurance guidelines which are not required of research laboratories and are difficult for them to meet. Despite the best intentions of research laboratories in trying to assist their subjects, they are technically in violation of federal law if results generated in a research setting are used for patient management. The purpose of establishing the ODTC is to offer a way to transfer both the regulatory and workload burdens from the research setting to an operating clinical laboratory dedicated to disorders that are too rare to be of interest to general reference laboratories.