MLS Topics

This lecture will cover some entities that require genetic testing for precise diagnosis and classification, as opposed to cases where the diagnosis is based only on morphology and immunophenotype.

Presented by
Rodney R. Miles, MD, PhD
Professor, Spencer Fox Eccles School of Medicine at the University of Utah
Medical Director, Hematopathology, ARUP Laboratories

This video is 54 min

This two-part series provides an introduction to the science of cytogenetics. Cytogenetics is the study of chromosomes, genomic structure, function and variation, and the role of these aspects in human disease and heredity. Explanations will include the basics of technologies of chromosome analysis and karyotyping.

Presented by
Erica F. Andersen, PhD, FACMG
Associate Professor, Spencer Fox Eccles School of Medicine at the University of Utah
Head of Clinical Operations for Cytogenetics and Molecular Genetics, ARUP Laboratories

This video is 57 min

This two-part series provides an introduction to the science of cytogenetics. Cytogenetics is the study of chromosomes, genomic structure, function and variation, and the role of these aspects in human disease and heredity. Explanations will include the basics of technologies of chromosome analysis and karyotyping.

Presented by
Erica F. Andersen, PhD, FACMG
Associate Professor, Spencer Fox Eccles School of Medicine at the University of Utah
Head of Clinical Operations for Cytogenetics and Molecular Genetics, ARUP Laboratories

This video is 1 hr 18 min

This presentation will review common constitutional syndromes that include sex chromosome abnormalities, trisomy, and microdeletion syndromes.

Presented by 
Jill Johnston, BS CG(ASCP)^CM
Cytogenetic Technologist Specialist, Cytogenetics, ARUP Laboratories

This video is 40 min

This lecture will cover FISH Probes and Procedure including specimen and cell type, probe types and probe strategies, and FISH procedure and analysis.

Presented by
Jill Johnston, BS CG(ASCP)^CM
Cytogenetic Technologist Specialist, Cytogenetics, ARUP Laboratories

This video is 26 min

This lecture will cover FISH Probes and Procedure including specimen and cell type, probe types and probe strategies, and FISH procedure and analysis.

Presented by
Jill Johnston, BS CG(ASCP)^CM
Cytogenetic Technologist Specialist, Cytogenetics, ARUP Laboratories

This video is 29 min

The international system for human cytogenetic nomenclature (ISCN) is used throughout the world to provide shorthand descriptions of human chromosome complement and its abnormalities. This lecture will cover ISCN Nomenclature.

MLS Nomenclature Practice Sheet PDF
MLS Nomenclature Practice Sheet With Answers PDF

Presented by 
Jill Johnston, BS CG(ASCP)^CM
Cytogenetic Technologist Specialist, Cytogenetics, ARUP Laboratories

This video is 37 min

This lecture will discuss cytogenetics and leukemias and will focus on Acute Lymphocytic/Lymphoblastic Leukemia (ALL), Mature B-Cell Leukemias, and Mature T-cell and NK-cell Leukemias.

Presented by
Jill Johnston, BS CG(ASCP)^CM
Cytogenetic Technologist Specialist, Cytogenetics, ARUP Laboratories

This video is 36 min

This lecture will explain cytogenetics and leukemias with a focus on Chronic Myelogenous Leukemia (CML), Myelodysplastic Syndrome (MDS), and Acute Myelogenous Leukemia (AML).

Presented by
Jill Johnston, BS CG(ASCP)^CM
Cytogenetic Technologist Specialist, Cytogenetics, ARUP Laboratories

This video is 25 min

This lecture will discuss what comparative genomic hybridization (microarray) is and how it works. An explanation of the basic workflow will be provided and go over some example analysis.

Presented by
Jill Johnston, BS CG(ASCP)^CM
Cytogenetic Technologist Specialist, Cytogenetics, ARUP Laboratories

This video is 37 min

This lecture will explain deletions and duplications including inversions, insertions, rings and other rearrangements in chromosomes.

Presented by
Jill Johnston, BS CG(ASCP)^CM
Cytogenetic Technologist Specialist, Cytogenetics, ARUP Laboratories

This video is 32 min

This lecture will cover solid tumor cytogenetics and sarcomas.

Presented by
Jill Johnston, BS CG(ASCP)^CM
Cytogenetic Technologist Specialist, Cytogenetics, ARUP Laboratories

This video is 13 min

This presentation will explain the basic processes used to culture and harvest chromosomes for cytogenetic analysis, how karyotyping is accomplished, and how findings are reported.

Presented by
Jill Johnston, BS CG(ASCP)^CM
Cytogenetic Technologist Specialist, Cytogenetics, ARUP Laboratories

This video is 26 min

This lecture focuses on balanced and unbalanced translocations, translocation segregation, translocation involving sex chromosomes, and translocation nomenclature.

Presented by
Jill Johnston, BS CG(ASCP)^CM
Cytogenetic Technologist Specialist, Cytogenetics, ARUP Laboratories

This video is 31 min

This lecture will discuss trinucleotide repeat disorders and breakage syndromes.

Presented by
Jill Johnston, BS CG(ASCP)^CM
Cytogenetic Technologist Specialist, Cytogenetics, ARUP Laboratories

This video is 25 min

Most immunodeficiencies leading to increased susceptibility to infections seen in clinical practice are secondary to other diseases, such as infections (e.g. HIV) and malignancies (e.g. Multiple Myeloma), or are iatrogenic (e.g. immunosuppressive drugs). Primary immunodeficiency diseases (PIDD) are thought to be genetic in origin. There are now over 150 PIDD recognized, and their number is still growing. Most of these diseases are individually rare, but as group they have an estimated prevalence of 1:1200 in the USA, similar to acute leukemias. Diagnosis of PIDDs requires integration of data from clinical findings with laboratory immunological analyses and increasingly with genetic testing. In this presentation we discuss the utility of molecular diagnosis in immunodeficiency diseases, and then review specific examples of genetic susceptibility to bacterial, fungal and viral infections. Immunodeficiencies are often though to lead to ‘opportunistic’ infections. The diseases presented demonstrated that PIDDs can lead to very specific infections.

Presented by 
Attila Kumánovics, MD
Assistant Professor, Department of Pathology, Spencer Fox Eccles School of Medicine at the University of Utah
Assistant Medical Director, Immunology Laboratory, Co-Director, Immunogenetics Laboratory, ARUP Laboratories

This video is 40 min

This presentation will focus on how genetic counselors utilize clinical information to complete a genetic test review to ascertain that the right test is ordered for the right patients at the right time. The presentation will illustrate specific costs savings, stemming from optimal genetic test selection and interpretation, to the patient, insurer, and hospital. The importance of clinical information to the post-analytic test interpretation process will also be discussed.

Presented by
Christine Miller, MS, LC GC
Genetic Counselor, ARUP Laboratories

This video is 57 min

This lecture is designed to provide a broad background in the study of human genome structure and function and how this knowledge is applied to clinical testing. This lecture will cover basic molecular biology concepts that provides the foundations of major molecular techniques commonly performed in clinical laboratories, including karyotype testing, fluorescent in situ hybridization (FISH), chromosomal microarray, and polymerase chain reaction (PCR)-based assays. Specimen requirements, advantages, and limitations of each technique will also be discussed.

Presented by
Parisa Khalili, MD, MSc
Assistant Professor of Pathology, Spencer Fox Eccles School of Medicine at the University of Utah
Medical Director, Molecular Oncology, ARUP Laboratories

This video is 49 min

The commercial introduction of next-generation sequencing (NGS) in 2005 ushered in a new biomedical research era by virtue of the technology’s ability to yield unprecedented DNA sequencing throughputs in a rapid and cost-effective manner. Eight years later, NGS is being increasingly applied as a molecular diagnostic tool in fields as diverse as oncology, infectious diseases, and inherited (genetic) disorders. NGS is transforming the diagnostic evaluation of genetic disorders by allowing for more comprehensive, personalized approaches. For example, multi-gene panels are being employed in a variety of genetic disorders wherein mutations in any one of a multiplicity of genes can result in overlapping signs and symptoms, and exome sequencing is being leveraged to identify causal and candidate genes in patients and families with undiagnosed disorders with genetic etiologies.

Presented by 
Karl V. Voelkerding, MD
Professor, Department of Pathology, Spencer Fox Eccles School of Medicine at the University of Utah
Medical Director, Bioinformatics, Genomics, ARUP Laboratories

This video is 49 min

This video gives insight into the field of bioinformatics and how Analytics are used in genomic testing to aid in testing accuracy when working with large volumes of data.

Presented by
Elaine Gee, PhD
Director of Bioinformatics, ARUP Laboratories

This video is 5 min

This short video discusses high-resolution HLA genotyping by Next-Generation Sequencing.

Presented by
Julio Delgado, MD, MS
Professor, Spencer Fox Eccles School of Medicine at the University of Utah
Vice Chair and Chief of the Division of Clinical Pathology, Spencer Fox Eccles School of Medicine at the University of Utah
Executive Vice President, ARUP Laboratories

This video is 5 min

This short video discusses molecular diagnostics of gastrointestinal parasites.

Presented by
Marc Roger Couturier PhD, D(ABMM)
Professor (Clinical), Spencer Fox Eccles School of Medicine at the University of Utah
Head of Clinical Operations for Clinical Microbiology and Immunology; Medical Director, Emerging Public Health Crises, Parasitology/ Fecal Testing, and Infectious Disease Antigen Testing, ARUP Laboratories

This video is 7 min

This lecture will address different types of RBC membrane disorders including hereditary spherocytosis (HS), hereditary elliptocytosis (HE), hereditary pyropoikilocytosis (HPP), and hereditary stomatocytosis (HSt). This lecture will also discuss these disorders’ pathophysiology and utilization of NGS for diagnostic identification.

Presented by
Archana Mishra Agarwal, MD
Professor (Clinical), Department of Pathology, Spencer Fox Eccles School of Medicine at the University of Utah
Medical Director, Hematopathology and RBC Laboratory, ARUP Laboratories

This video is 51 min