1. Genetic tests: DDL currently offers Sanger sequencing tests in 8 clinical diagnostic categories involving 12 genes (Table 1). Table 1. Current Clinical Genetic Testing Protocols in the DDL Genetic Testing Operation Diseases Gene Method 1 X-linked Retinoschisis RS1 CDS Sanger sequencing 2 Bietti Cryslline Corneoretinal Dystrophy CYP4V2 CDS Sanger sequencing 3 X-linked Congenital Stationary Night blindness NYX CDS Sanger sequencing 4 Oculacutenous Albinism type 1 TYR CDS Sanger sequencing 5 Oculacutenous Albinism type 2 OCA2 CDS Sanger sequencing 6 Cone Rod Dystrophy GUCY2D Target mutation by sequencing 7 Occult Macular Dystrophy RP1L1 Target mutation by sequencing 8 Achromatopsia CNGA3 CDS Sanger sequencing 9 Achromatopsia CNGB3 CDS Sanger sequencing 10 Corneal Dystrophy, lattice type TGFBI CDS Sanger sequencing 11 Meesmann Corneal Dystrophies KRT3 CDS Sanger sequencing 12 Meesmann Corneal Dystrophies KRT12 CDS Sanger sequencing 2. Compliance with CLIA regulations Since 2009, DDL has established a standard annual review of protocols to comply with CLIA regulations. An increasing numbers of clinical protocols have been implemented in the DDL since 2009. DDL also commits to continued quality improvement (CQI) by applying new methods, new procedures, and modified criteria/protocols in a compliance with current QA protocols. Implementation of CQIs have resulted in improved accuracy of tests, faster turnaround time and reduced operating costs. Regular maintenance of equipment, including pipettes, thermocyclers and sequencers, is also required to ensure continued accuracy of clinical testing. 3. Reporting of testing results The DDL genetic testing operation has delivered 113 reports back to clinicians (including the eyeGENE Coordinating Center) in the 2013 budget year (Table 2). The majority of them were in support of clinical trials, patient care, clinical research and the eyeGENE operation. Table 2. Summary of Clinical Reports from DDL Genetic Testing Operation Gene Methods Reports RS1 CDS Sanger sequencing 28 CYP4V2 CDS Sanger sequencing 1 NYX CDS Sanger sequencing 8 TYR CDS Sanger sequencing 11 OCA2 CDS Sanger sequencing 18 GUCY2D Target mutation by sequencing 19 CNGA3 CDS Sanger sequencing 7 CNGB3 CDS Sanger sequencing 13 TGFBI CDS Sanger sequencing 14 RP1L1 Target mutation by sequencing 4 RP1L1 Target mutation by sequencing 12 4. Continuing the development of new tests/protocols for clinical services DDL has committed to develop more clinical tests to further support NEI intramural clinical patient care and clinical research, extramural and eyeGENE program. DDL has been focusing on potential tests that are not clinically available in the community and/or engaging in advanced technology or methodology that are not commonly accessible or reimbursable in the standard care of patients. We are developing NGS based clinical genetic testing for retinal dystrophies.
