There was a short period of time in the past year that NEI DNA Diagnostic Laboratory suspended DNA diagnostic testing activity due to completed testing personnel turnover and laboratory facility relocation. The lab managed only to maintain the DNA extraction activity. New directorship started in the early October, 2008. New director had recruited a new testing biologist in November, 2008. After original NIH new-hired trainings for the director and the testing biologist, the lab conducted a very thorough review of lab operation for the Quality Assessment (QA) purposes. A plan has been developed to improve the lab operation and re-install the suspended diagnostic testing. Preparation for CLIA renewal inspection: The NEI DNA Diagnostic Laboratory has the CLIA license to conduct the clinical molecular testing. This license will be expired in November, 2009 and subject to be renewed. There will be an inspection by CMS CLIA office in order to certify a new license to the lab. To prepare for the license renew and inspection, lab has been reviewing the compliance to CLIA regulations. The lab has re-organized the documents, re-written the QA protocols, and performed necessary remedial actions. The lab will have a NIH internal pre-inspection by NIH CLIA resources center in later September, 2009. NEI DNA lab facilities: To comply with the CLIA regulations for facility requirement, with the great supports from the NEI Intramural Scientific Director and Deputy Scientific Director, the lab was first assigned temporary additional space to resume clinical operation. The lab re-organized and partially relocated in February, 2009. Later, the lab was assigned with current more appropriate spaces in July, 2009 and had another partial relocation in August, 2009. The lab will stay in current location as planned. Revalidation: The new hired testing biologist was sent to Applied Biosystems Inc training class at Rockville for 3130xl sequencer use. He was trained for clinical procedures and managing of equipments for CLIA purposes. And he was also trained to serve as lab manager to hold lab credit card for purchasing purposes. The lab started the re-validation of suspended protocols after first relocation. The first re-validated protocol was the DNA testing for the gene responsible for the X-linked Juvenile Retinoschisis, XLRS1 gene. This re-validation was completed in May, 2009. Now, the lab is working on re-validation of another gene, RPGR, responsible for X-linked Retinitis Pigmentosa, RP3. RPGR is a gene with 19 exons. The job of re-validation takes time. Especially, one of the major target exon, ORF15, is 1.7 kb long. Many publications demonstrated and other CLIA labs in eyeGENE network experienced the technical difficulties in PCR amplifications of this exon. Now the lab is making progress on re-validation. Resolving backlog: There was a backlog from the past year. Many submitted samples were waiting for re-installation of DNA testing. After re-validation of XLRS1, the lab has completed 12 pending RS cases in the last two months, and sent out 18 clinical reports including six reports to eyeGENE program. Developing new clinical tests: The lab is planning to develop new clinical tests. Now the lab is working on a gene responsible for Renal-coloboma syndrome, PAX2 gene with help from new OGVFB fellow. Quality improvement of eyeGENE program: The lab identified earlier that eyeGENE DNA extractions are not sufficient monitored for QA purposes because DNA concentration measurement was not done for every DNA extracted. To comply with the QA requirements, the lab developed and validated a new protocol using newly purchased equipment, Nanodrop Spectrophotometer N-1000, to start measuring DNA concentration on every new sample. The lab also implemented this quality assessment procedure to every stored DNA in the eyeGENE registry. The job has been completed and total 1738 DNA tubes have been measured. Inventory of eyeGENE DNA storage: The lab identified earlier that the eyeGENE program should have a more efficient procedure to organize and track any changes in DNA storage. The eyeGENE program has just reached 1000 samples milestone and is moving to next goal for 2500 samples. It would be very important to be more efficient and organized. Therefore, the lab decided to perform inventory and reorganization. Now the inventory is completed and reorganization is in progress.
| 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 |
