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 November 2, 2011. No deficiencies were identified. This license was successfully renewed to November 4, 2013. The lab is committed to the continuation of compliance with CLIA laws and regulations. We have implemented a revised 2012 QA program protocol to direct the clinical activities in routine. 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 increase the capacity of eyeGENE operation to fit increased recruitment of patients: Last year, DNA lab was awarded for a fund to purchase an automated DNA extraction machine, Autopure LS, which is capable to extract DNA from 10 ml blood per sample. After thorough evaluation and validation, the lab has implemented the Autopure LS with standardized protocol and personnel training. It is a standard operation procedure for the eyeGENE operation and other clinical operations. This quality improvement action has greatly reduced turn-around time of DNA extraction in the lab. The shelf time for blood samples pending for DNA extraction has been greatly reduced from 6 months to one month or shorter. 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 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 since 2009. In last year, the lab has validated two new tests for Achromatopsia, sequencing of CNGA3 and CNGB3 genes. Sequencing tests for these two genes was part of the clinical trial of Achromatopsia treatment. The clinical tests were developed to support the initiation of the clinical trial. Because of the urgency for patient enrollment, lab has been prioritizing the efforts in the clinical activities. The two tests were developed and validated in three months. DNA lab successfully provided service tests for the enrollment of patients in the clinical trial in time. To develop new clinical protocol for the NEI Biobank project: NEI Clinics has developed a clinical IRB protocol, NEI Biobank registry for patients with retinal diseases. As part of this biobank operation, NEI DNA lab has been developing protocols to extract and storage DNA and blood for research and clinical tests. This Biobank project has been started recently and 6 patients have been enrolled and processed in the DNA lab. DNA lab needs to increase the capacity to support more enrollments. 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 3900 samples in this month. NEI DNA Diagnostic operation offers RS1, CYP4V2, NYX, GUCY2D, TYR, CNGA3 and CNGB3 gene sequencing testing. NEI DNA lab has completed 42 RS1 tests, 10 GUCY2D tests, 9 TYR tests, 8 NYX and 8 CYP4V2 tests since October 2011. Sixteen patients have been tested for both CNGB3 and CNGA3 after the tests were implemented in February 2012.
| Simeonov, Dimitre R; Wang, Xinjing; Wang, Chen et al. (2013) DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mutat 34:827-35 |
| 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 |
| D'Souza, Leera; Cukras, Catherine; Antolik, Christian et al. (2013) Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis. Mol Vis 19:2209-16 |
| Wang, Xinjing; Cutting, Garry R (2011) Chronic rhinosinusitis. Adv Otorhinolaryngol 70:114-21 |
| Song, Jin; Smaoui, Nizar; Ayyagari, Radha et al. (2011) High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. Invest Ophthalmol Vis Sci 52:9053-60 |
