Under the supervision of the Newborn Screening Molecular Branch Manager, uses considerable knowledge to independently perform highly complex advanced molecular genetic procedures (including DNA extraction, electrophoresis, polymerase chain reaction (PCR), real-time PCR, automated DNA sequencing, and DNA sequence analysis) to identify mutations causing spinal muscular atrophy, cystic fibrosis, sickle cell disease, medium chain acyl-CoA dehydrogenase deficiency, galactosemia, and other NBS disorders using standardized procedures developed in the DNA Analysis Team. Responsible for making significant decisions on the accuracy of laboratory tests on human specimens. Independently determines and troubleshoots complex results based on Standard Operating Procedures (SOP). Performs the equipment maintenance and troubleshooting, specimen and reagent preparation, clean-up, and other supporting work for the laboratory. Performs quality control (QC) for DNA studies and utilizes considerable working knowledge of all procedures to participate in maintaining analytic accuracy and continuity of testing. Performs computer database searches, specimen login and record-keeping of results. Actively participates in the safety program. Duties are independently performed with considerable latitude, adherence to standard protocol, and with use of scientific knowledge and independent judgment. Work hours/days and laboratory assignments may vary; all staff members will be required to work on Saturday as part of a rotating schedule.
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Job Type
Full-time
Career Level
Mid Level