The primary intent of the UCLA Orphan Disease Testing Center (ODTC) 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 blood sample 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. .
Custom Mutation Analysis (please contact us to discuss)