H GEN 6550 - ARUP Laboratory Fieldwork Course

Students will have the opportunity to observe practicing genetic counselors, clinical variant scientists, and many laboratory procedures including PCR, Sanger sequencing, NGS sequencing, enzyme assays, karyotyping, FISH, and SNP genomic microarray. They will get hands-on practice with karyotyping/scoping chromosomes and applying ACMG variant classification criteria to specific gene variants. They will participate in workshops in molecular genetics, biochemical genetics, cytogenetics, NIPT, and maternal serum screening, and gain familiarity with the following topics: mosaicism, runs of homozygosity, methylation, urea cycle disorders, organic acidurias, hemoglobinopathies, spinal muscular atrophy, and many others. Students will review genetic test orders for appropriateness and may have the opportunity to contact a health care provider to obtain clinical information or communicate abnormal results while under the supervision of a certified genetic counselor. Finally, they will be tasked with developing and delivering 3 short case presentations.