Patient Clinical Information: Things to Consider When Submitting a Patient Phenotype with Your Sample
A detailed patient phenotype is an important component of the genetic testing matrix and is requested by most genetic testing laboratories when submitting a sample for sequencing. Have you ever wondered what the right amount of phenotypic information is? What is too little or too much information? Are there specific questions you should be asking? And finally, what difference does it make to the laboratory?
In this educational webinar, Dr. Bryce Mendelsohn, Clinical Medical Geneticist, will discuss what in his experience is the most useful phenotypic information to send along with your sample. He will be joined by our Seattle Lab Director, Dr. Jennifer Schleit, who will review why, from the laboratory perspective, a detailed patient phenotype is essential to increase the chances of obtaining a diagnosis. Together they will further discuss this issue with the help of some clinical examples.
- Describe what consists of a useful patient phenotype summary
- Determine relevant questions to ask the patient about health history
- Construct a checklist of things to consider when summarizing the patient phenotype
Interested in learning more? Explore our on-demand webinars by clicking, here.
Bryce Mendelsohn, PhD, completed his MD and received a PhD in Molecular Genetics and Genomics at Washington University in St. Louis. He completed a postdoctoral fellowship and residency programs in pediatrics and medical genetics at the University of California. Dr Mendelsohn served as an Assistant Clinical Professor at Benioff Children’s Hospital and is currently working as a Clinical Medical Geneticist in California.
Jennifer Schleit, PhD, FACMG, received a PhD in pathology from the University of Washington in Seattle. She completed a clinical fellowship at the University of Washington and received her certification in clinical molecular genetics from the American Board of Medical Genetics and Genomics (ABMGG). Dr Schleit served as an Assistant Director at the Center for Precision Diagnostics at the University of Washington before accepting a position as senior geneticist at Blueprint Genetics in 2017. Her last position at Blueprint Genetics was as Laboratory Director of the Seattle facility until September 2022.