Molecular Diagnostics

Molecular Diagnostics is an emerging field within Laboratory Medicine and can be a challenge to include in the MLS curriculum. This page provides some helpful supplementary information for inclusion in curricula and may be applicable to multiple laboratory disciplines.

These resources can be used to enrich student experiences while studying these disciplines.

To provide feedback please contact: Karen McRae, MS, MT(ASCP), CLS, Student Education Coordinator, ARUP Institute for Learning, ARUP Laboratories. ( or (800) 242-2787 ext. 3615

Video Lectures

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.

Utility of Whole Genome Arrays for the Detection of Clinically Relevant Imbalances and Homozygosity in the Constitutional and Hematologic Malignancies Setting

Traditional chromosome analysis has been a first-tier recommended technology for both the constitutional setting of a child with intellectual disabilities or congenital anomalies as well as the hematologic setting for the patient with myeloid or lymphoid malignancies. In the constitutional setting, whole genome arrays have largely replaced traditional chromosome analysis as a first-tier test as the detection of clinically significant abnormalities has tripled with this technology over a traditional chromosome analysis. Whole genome arrays are also clinically available from multiple laboratories for detection of imbalances and stretches of homozygosity in hematologic malignancies. As we consider the value of this technology in this patient population, aspects of hematologic conditions must be considered such as mosaicism, possibility of multiple clonal populations, prevalence of clinically relevant balanced rearrangements and intragenic mutations, identification of imbalances of unknown clinical significance, and array platform design and detection limitations. This presentation will highlight the utility and challenges of this technology in both the constitutional and hematologic setting, including a discussion of compatibilities with other genetic technologies.

This video is 49 minutes.

Prognostic Gene Expression Tests for Early Stage Breast Cancer

The presentation will discuss prognostic gene expression tests for use in early stage breast cancer and the level of scientific evidence that has been generated to date for each test.

This video is 22 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.