Laboratory Genetics and Genomics

A 28-year-old male was referred to the Cytogenetics laboratory due to a history of a partner with multiple miscarriages. Chromosome analysis of peripheral blood revealed a normal karyotype 46,XY (Figure 1), but nine metaphases also showed gaps at 16q23 (Figure 2).

Cinthya Jeanette Zepeda Mendoza, Ph.D.. Fellow, Laboratory [...]
By MCL Education • June 11, 2019

Mayo Clinic laboratory experts share three case studies in this month’s “PathWays” post and are challenging you to test your anatomic and clinical pathology, laboratory genetics and genomics, and pathology and cytology knowledge. Review the cases, take the quizzes, and learn how the correct diagnoses were made.

By Michelle Odean • January 8, 2019

A 52-year-old male underwent whole-exome sequencing (WES) for amyotrophic lateral sclerosis (ALS). While no germline alterations relevant to his ALS were detected, multiple de novo mutations associated with hematological malignancy were unexpectedly discovered in ~20% of his sequencing reads, suggesting that these were somatic alterations. Review of the patient’s medical [...]

By MCL Education • January 8, 2019

Mayo Clinic laboratory experts share four case studies in this month’s PathWays post and are challenging you to test your anatomic pathology, infectious disease pathology, laboratory genetics, and gastrointestinal pathology knowledge. Review the cases, take the quizzes, and learn how the correct diagnoses were made.

By Erika Fetterman • August 7, 2018

A 25-year-old female presented with extreme malnourishment (BMI=9). Her nutrition has been suffering due to severe gastroparesis along with cyclic vomiting and food intolerance. Her symptoms began when she was approximately 19 years old and multiple gastrointestinal assessments have failed to result in a diagnosis. Analysis of urine organic acids [...]

By MCL Education • August 7, 2018

Mayo Clinic laboratory experts share four case studies in this month's PathWays post and are challenging you to test your gastrointestinal, molecular diagnostics, and hematopathology knowledge. Review the cases, take the quizzes, and learn how the correct diagnoses were made.

By Erika Fetterman • June 12, 2018

This month's Mayo Clinic "PathWays Case Studies" test your molecular diagnostics, gastroenterology, anatomic, and genitourinary pathology knowledge. View the cases, take the quizzes, and learn how the correct diagnoses were made. Good luck!

By Erika Fetterman • May 8, 2018

Mayo Clinic laboratory experts share four case studies in this month's PathWays post and are challenging you to test your anatomic pathology and laboratory genetics knowledge. Review the cases, take the quizzes, and learn how the correct diagnosis was made. Good luck.

By Erika Fetterman • March 6, 2018

A 68-year-old woman underwent endometrial biopsy for post-menopausal bleeding, which showed endometrial adenocarcinoma, endometrioid type. The screening test for Lynch syndrome by IHC (dMMR-IHC) and molecular testing for microsatellite instability (MSI testing) was performed, and the results are shown here (all photomicrographs are taken at 10X). Which one is the [...]

By MCL Education • March 6, 2018

This month’s PathWays Case Studies test your anatomic pathology, laboratory genetics, hematopathology, and clinical core laboratory knowledge. View each case and see if you can make the correct diagnosis.

By apriljosselyn • February 6, 2018

​A six-year-old boy presented with fever and bone pain. He was found to have thrombocytopenia, anemia, and splenomegaly. MRI showed bone marrow abnormality. A hematologic malignancy was suspected. He had a bone marrow biopsy, which showed foamy histiocytes, consistent with Gaucher disease.

  Erin Conboy, M.D. Fellow, Clinical Biochemical Genetics Mayo Clinic Silvia Tortorelli, [...]
By MCL Education • February 6, 2018

This week's case study reviews the PTEN genetic testing from a 34-year-old female who presented to a dermatology clinic for evaluation of several facial skin lesions. Can you make the diagnosis?

By Rene Revier • July 25, 2017

This week's case study reviews the molecular and biochemical genetic testing from a 34-year-old female. Can you make the diagnosis?

By Rene Revier • July 18, 2017