Laboratory Genetics and Genomics

This "Pathways" program provides Anatomic and Clinical Pathology cases that include a history, potential answers, rationale, and relevant references. Cases for October include the following sub-specialties: Gastroenterology, Gynecological, Head and Neck & Surgical, Hematopathology, and Laboratory Genetics & Genomics,

By MCL Education • October 13, 2020

This "Pathways" program provides Clinical Pathology case that includes a history, potential answers, rationale, and relevant references. This case sub-specialty is Laboratory Genetics and Genomics pathology.

By MCL Education • October 13, 2020

This "Pathways" program provides Anatomic and Clinical Pathology cases that include a history, potential answers, rationale, and relevant references. Cases for June include the following sub-specialties: Clinical Microbiology, Infectious Disease, Laboratory Genetics and Genomics, Molecular Pathology and Neuropathology.

By MCL Education • June 9, 2020

This "Pathways" program provides a Clinical Pathology case that include a history, potential answers, rationale, and relevant references. This case sub-specialty is Laboratory Genetics and Genomics.

By MCL Education • June 9, 2020

This "Pathways" program provides Anatomic and Clinical Pathology cases that include a history, potential answers, rationale, and relevant references. Cases for February include the following sub-specialties: Anatomic Pathology, Cytopathology, Clinical Microbiology, Gastroenterology, Hematopathology, Infectious Disease, and Laboratory Genetics & Genomics

By MCL Education • February 11, 2020

A 71 yr old female with a history of a central nervous system lymphoma, an allogenic stem cell transplant and graft versus host disease was tested for hereditary hemochromatosis. DNA extracted from whole blood was tested by a multiplex PCR based assay utilizing a Mass Array platform. Molecular testing showed [...]

By MCL Education • February 11, 2020

This "Pathways" program provides Anatomic and Clinical Pathology cases that include a history, potential answers, rationale, and relevant references. Cases for January include the following sub-specialties: bone and soft tissue, cellular therapy, laboratory genetics and genomics, and pulmonary

By MCL Education • January 14, 2020

A 19 year old female with a complex phenotype suggestive of a mitochondrial disorder had mitochondrial DNA sequencing performed three times at an outside institution, all with inconclusive results due to “multiple heteroplasmic positions”. Mitochondrial genome sequencing was performed here revealing 6 benign homoplasmic and 21 benign variants at 10-20% [...]

By MCL Education • January 14, 2020

This "Pathways" program provides Anatomic and Clinical Pathology cases that include a history, potential answers, rationale, and relevant references. Cases for November include the following sub-specialties: Cytogenetics, Genetics, Gynecological, and Molecular Genetics.

By MCL Education • November 13, 2019

α-globin gene analysis testing was performed on a 30-year-old man with unknown clinical history. Gene dosage was assessed using multiplex ligation-dependent probe amplification (MLPA). Multiplex PCR and gel electrophoresis were performed to detect the common -3.7 kb and -4.2 kb deletions. The test results and location of MLPA probes within [...]

By MCL Education • November 13, 2019

Mayo Clinic laboratory experts share five case studies in this month’s “PathWays” post and are challenging you to test your laboratory genetics & genomics, bone & soft tissue, renal, infectious disease, and gastroenterology pathology knowledge. Review the cases, take the quizzes, and learn how the correct diagnoses were made.

By MCL Education • September 20, 2019
A 5 year old male patient with a complex phenotype was seen in clinic. He presented with developmental delay, feeding difficulty, cerebellar malformation, coagulation problems, hypothyroidism, retinitis pigmentosa, and bilateral hearing loss. Though not overweight, he also had abnormal distribution of body fat with fat pads in the lower back [...]
By MCL Education • September 20, 2019

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

By MCL Education • June 11, 2019