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Clinical Experience

Laboratory Genetics and Genomics Fellowship

Molecular Genetics Laboratory

The Molecular Genetics Laboratory at Children’s Mercy Hospital performs genetic testing for multiple genetic conditions including: Prader-Willi and Angelman syndromes, connexin 26, B&T cell rearrangement, FLT3, NPM1, craniosynostosis panel, Fragile-X, Hemochromatosis, MCAD deficiency, mitochondrial disorders, Mowat-Wilson syndrome, Rett syndrome, Spinal muscular atrophy, Pitt-Hopkins syndrome, thrombosis. In addition, the lab offers clinical Whole Exome Sequencing and research-based Whole Genome sequencing.

Laboratory Experience

The Fellow will have hands-on learning experience with all molecular methods, including, DNA isolation, Sanger and next-generation sequencing, RFLP analysis, fragment analysis, etc. under the guidance of certified laboratory technologists. Analysis of test results detected by molecular methods under the guidance of ABMGG certified molecular laboratory directors will provide the trainee the opportunity to learn the applications and limitations of molecular genetic technologies, develop skills in accurate use and interpretation of standard molecular genetics nomenclature, and to correlate laboratory findings with the clinical manifestation of genetic disorders. The Fellow will be trained in sample processing, testing using validated methodologies, and results interpretation, reporting, and communication.

Cytogenetics Laboratory

The Cytogenetics Laboratory is a full-service laboratory performing G-banded chromosomal analysis, fluorescence in-situ hybridization, copy number + SNP microarray, exon-level deletion/duplication microarray for inherited and acquired genetic disorders. STR study is done for post-transplantation engraftment analysis and for detection of maternal cells in various sample types. The laboratory processes all sample types, including peripheral blood, amniotic fluid, chorionic villus, products of conception, tissues, bone marrow, fluids, and solid tumors. The laboratory has facilities for culture, processing and analysis of lymphocytes, amniocytes, chorionic villus samples, skin fibroblasts, products of conception tissues, hematologic and solid tumor tissues on site.

Laboratory Experience

The Fellow will work closely with technologists and ABMGG certified laboratory directors to learn all aspects of laboratory testing, from sample accession (pre-analytic), sample processing, analysis, interpretation of data (analytic), and report writing and communication of results to providers with correlation of genetic results with other laboratory and clinical parameters (post-analytic).

Laboratory Staff

The Laboratories have six ABMGG certified directors, two genomic analysts, a laboratory manager, 3 genetic counselors, 13 certified clinical laboratory technologists, 4 non-certified clinical laboratory technologists, 3 clinical laboratory technicians. The Molecular Genetics laboratory has three directors, two analysts, a laboratory supervisor and 2 certified technologists. 

Our Laboratory Genetics and Genomics Fellowship team

Elena Repnikova, PhD
Program Director

Nancy Draffen-Brown, MBA
Fellowship Coordinator