Orphan Disease Testing

The primary intent of the UCLA Orphan Disease Testing Center (ODTC) is to provide validated confirmation of variants identified in research laboratories which can then be reported directly to clinicians and patients who request such information for clinical decision-making. We will confirm the variant in a blood or genomic DNA sample from the proband or other family members.  If the variant status is unknown, a separate positive control sample is required. After a variant is confirmed, diagnostic, prenatal, and carrier testing will be available for other at-risk family members.

Test Menu

• Custom Variant Analysis (please contact us to discuss)

Forms and Protocols

• Molecular Pathology Requisition Form
• New York State Genetic Testing Consent Form
• NPL Form and Information for NY Specimens

Education

• Residency | Molecular Pathology Rotation
• Fellowship | Laboratory Genetics and Genomics
• Fellowship | Molecular Genetic Pathology