Successful CLIA certification renewal: The NEI DNA Diagnostic Laboratory has the CLIA license to conduct the clinical molecular testing. CMS Certification and Enforcement Branch inspected the NEI DNA Diagnostic Laboratory on July 31, 2013. No deficiencies were identified. This license was successfully renewed to November 3, 2015. The lab is committed to the continuation of compliance with CLIA laws and regulations. In addition to our routine clinical performance, we are reporting our efforts in compliance in new test developments and new procedure implementations in following sections. We are also reporting service achievements in the past year. To train additional testing personnel to maintain a seamless transition of testing team: The key testing personnel has decided to accept a higher position in another clinical laboratory earlier in 2013. Since he was the only person capable of performing clinical tests in this lab, it would affect lab to conduct clinical procedure, especially affecting clinical testing protocols. We have made special arrangement to train other clinical personnel for the testing procedures in a compliance of CLIA regulation and NEI DNA Diagnostic Laboratory QA protocols. Although it affected our research activities and development of new clinical tests, we were successfully trained two testing technicians to continue the clinical tests and later, we have successfully hired a very experienced biologist to refill the vacancy due to the leave of our key testing personnel. Right now, we are training the new recruited biologist for clinical procedures. We are continuing our effort to fully resume our clinical operations. To continue the patient enrollment in the eyeGENE program: The NEI DNA Diagnostic Laboratory has been providing services for several clinical operations. One of the clinical protocols is the eyeGENE program. DNA lab has developed unique standard operation procedure for the eyeGENE operation and other clinical operations. In the past year, eyeGENE program had been experienced multiple personnel turnover. It has a great amount of demanding in clinical protocol training for new personnel. The eyeGENE program has also developed new clinical procedure for sample identity confirmation last year to prevent potential sample handling errors since this program has become a large registry holding almost 5 thousand unique patient samples and processing thousands of samples for clinical tests and research per year. Details of this program will be summarized in a separate annual report. To develop new testing protocol to better serve the NEI Eye Clinic, external collaborators of NEI Eye Clinic and intramural NEI research community: The lab has been offering clinical tests for X-linked Juvenile Retinoschisis, Bietti Crystalline Corneoretinal Dystrophy, X-linked Congenital Stationary Night Blindness, Ocularcuteneous Albinism type 1, Cone-Rod Dystrophy, and Achromatopsia since 2009. In last year, the lab has validated two new sequencing tests, one for OCA2, a gene for Ocularcuteneous Albinism type 2 which is also part of a collaboration with NHGRI;second for TGFBI, a Lattice corneal dystrophy gene. This test is to support the eyeGENE program for patient enrollment. Two more tests are also in the middle of validation. Both Krt3/Krt12 gene sequencing tests will be validated to support eyeGENE program for Mannesman corneal syndrome or Fuchs corneal syndrome. DNA lab has awarded recently of a Thunderstorm system from RainDance Technology, Inc and a MiSeq next generation sequencer from Illumina to adopt high throughput technologies in gene sequencing service. Upon the installation and validation in the coming months, these instruments will great improve the capacity of DNA lab in research and service for eyeGENE program and NEI clinicians. To continue the service of genetic testing for NEI eye clinic for standard care of patients and for eyeGENE operation: NEI eyeGENE core operation has been continuing the patient enrollment and sample collection. The eyeGENE repository has reached 4700 samples in this month. NEI DNA Diagnostic operation are offering RS1, CYP4V2, NYX, GUCY2D, TYR, CNGA3, CNGB3, OCA2, and TGFBI gene sequencing tests. NEI DNA lab has completed 36 RS1 tests, 12 GUCY2D tests, 11 TYR tests, 6 NYX, 8 CYP4V2 tests, 22 CNGA3, and 22 CNGB3 test in the last 12 months.

National Institute of Health (NIH)
National Eye Institute (NEI)
Clinical Support Services Intramural Research (ZID)
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U.S. National Eye Institute
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Sullivan, Lori S; Bowne, Sara J; Reeves, Melissa J et al. (2013) Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 54:6255-61