Orphan Disease Testing

Wayne Grody, MD, PhD
Director, Molecular Diagnostics Laboratories

Contact Information

Operating Hours
Monday-Friday, 8:00-5:00

Location
Phone:  310-794-2781
Fax:  310-825-0285

Director
Wayne Grody, MD, PhD
310-825-5648 | Email

Lab Manager
Hua (Helen) Jin, PhD
310-267-4522 | Email

Lab Supervisor
Cora Au, CLS
310-794-1336 | Email

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 Diagnostics Requisition Form
• NY Genetic Testing Consent Form
• NPL Form and Information for NYS Specimens

Education

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

Faculty

• Wayne Grody, MD, PhD, FACMG, FCAP
• Josh Deignan, PhD, FACMG