Molecular Diagnostics

Introduction to Molecular Diagnostics

The Introduction to Molecular Diagnostics 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 as well as genomic alterations that serve as molecular biomarkers in cancer. 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 will be presented, and specimen requirements, advantages, and limitations of each technique will be discussed.

This video is 49m

Cytogenetics 1

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.

This video is 57m

Cytogenetics 2

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.

This video is 1h, 18m

Cytogenetics for Beginners Series: The Basics

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

This video is 27m

Cytogenetics for Beginners Series: Translocations

This lecture will describe balanced and unbalanced translocations including those in sex chromosomes and the nomenclature used on reports.

This video is 31m

Cytogenetics for Beginners Series: Other Alterations

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

This video is 32m

Cytogenetics for Beginners Series: Common Constitutional Syndromes

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

This video is 41m

Cytogenetics for Beginners Series: ISCN Nomenclature

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

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

This video is 38m

Cytogenetics for Beginners Series: Fluorescent In Situ Hybridization - Probes and Procedure

This lecture will cover Fluorescent In Situ Hybridization (FISH) Probes and Procedure including specimen and cell type, probe types and probe strategies, and FISH procedure and analysis.

This video is 29m

Cytogenetics for Beginners Series: Fluorescent In Situ Hybridization - Validation and FFPE FISH

This lecture will continue the discussion on Fluorescent In Situ Hybridization (FISH) and will cover quality control and formalin-fixed, paraffin-embedded (FFPE) samples.

This video is 24m

Cytogenetics for Beginners Series: Fluorescent in Situ Hybridization – Nomenclature

This lecture will discuss Fluorescent in Situ Hybridization (FISH) and will focus on FISH nomenclature.

This video is 26m

Cytogenetics for Beginners Series: Leukemias – CML, MDS, AML

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

This video is 25m

Cytogenetics for Beginners Series: Leukemias – ALL, Mature B-cell, Mature T-cell, and NK-cell

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

This video is 37m

Cytogenetics for Beginners Series: Sarcomas

This lecture will cover solid tumor cytogenetics and sarcomas.

This video is 13m

Cytogenetics for Beginners Series: Microarray

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

This video is 37m

Cytogenetics for Beginners Series: Trinucleotide Repeat Disorders and Breakage Syndromes

This lecture will discuss trinucleotide repeat disorders and breakage syndromes.

This video is 25m

Spotlight on Testing Technology: Bioinformatics Analytics in Genetic Testing

Our ARUP Institute for Learning Spotlight Series is designed to provide brief educational overviews highlighting test utilization issues, new tests, and testing technology. In this video, Elaine Gee, PhD, 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.

This video is 5 minutes.

Spotlight on Testing: High-Resolution HLA Genotyping by Next-Generation Sequencing

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

This video is 5 minutes.

Spotlight on Testing: Molecular Diagnostics of Gastrointestinal Parasites

This short video discusses molecular diagnostics of gastrointestinal parasites.

This video is 7 minutes.

Introduction of Next-Generation Sequencing and Its Application to the Diagnosis of Inherited Disorders

In the past eight years, next-generation sequencing (NGS) has been broadly adopted and used in many areas, including gene discovery and clinical testing in genetic medicine. NGS-based diagnostics testing for inherited disorders is now available in clinical molecular diagnostics laboratories and provide a powerful tool for searching disease-causing mutation(s). This presentation focuses on the utility of gene panels, exome and whole genome sequencing, assay validation, bioinformatics algorithm, and results interpretation.

This video is 52 minutes.

Genetic Susceptibility to Infectious Diseases

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.

This video is 40 minutes.

Molecular Technology in Newborn Screening: SCID and Beyond

While molecular technologies have been used to support newborn screening since the 1990s, severe combined immunodeficiency (SCID) is the first molecular test used as the primary screening test in state newborn screening programs. Pioneered by the speaker, state-wide routine SCID screening is based on the detection of T-cell receptor excision circle (TREC) by PCR in dried blood spots. Different cutoff values are established for full term and premature newborns, and abnormal results from the screen are further evaluated by confirmatory tests. The utility of applying next generation sequencing as part of cystic fibrosis screening is also discussed.

This video is 45 minutes.

Providing a More Comprehensive and Personalized Approach to Genetic Disorders through Next-Generation Sequencing

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.

This video is 49 minutes.

Importance of Clinical Information for Optimal Genetic Test Selection and Interpretation

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.

This video is 57 minutes.