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Genetics

Chromosome analysis, which was once the preferred genetic test for a wide variety of congenital abnormalities, is now one of the most frequently misordered cytogenetic tests at MML. This "Specialty Testing" webinar will outline the differences in technologies and the appropriate use of each test.

By Mayo Clinic Laboratories • February 24, 2017

A recent article in the Journal Sentinel highlights the importance of newborn screening and what can go wrong in analyzing and interpreting test results.

By Kelley Luedke • December 27, 2016

The recommendations surrounding newborn screening are constantly in flux. Newly discovered treatments or emerging laboratory technologies are enabling additional recommendations for newborn screening.

By Mayo Clinic Laboratories • December 12, 2016

In cases of sudden or unexpected death, autopsy evaluation can include a biochemical analysis to identify deaths caused by fatty acid oxidation disorders.

By Communiqué Archive • November 16, 2016

The algorithm can be viewed here.

By brentwestra • October 28, 2016
The algorithm can be viewed here.
By brentwestra • October 20, 2016
The algorithm can be viewed here.
By brentwestra • October 20, 2016

The algorithm can be viewed here.

By brentwestra • September 28, 2016

An algorithm is a step-by-step procedure to guide clinicians and laboratorians in appropriate laboratory test ordering.

By brentwestra • September 13, 2016

The algorithm can be viewed here.

By brentwestra • September 9, 2016

Prader-Willi syndrome and Angelman syndrome are distinct genetic disorders caused by lack of gene expressions. Even though the symptoms of each disease are strikingly different, some patients have a mosaic methylation pattern of the Prader-Willi/Angelman syndrome critical region.

By Kelley Luedke • June 20, 2016

Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling is a high-resolution method for detecting copy number changes (gains or losses) across the entire genome in a single assay. Umut Aypar, Ph.D., provides a video overview of this test.

By Alyssa Frank • April 27, 2016

Cytochrome P450 2C19 (encoded by the gene CYP2C19) is a liver enzyme that participates in the activation of the anticoagulant clopidogrel (Plavix) and metabolism of other drugs, such as citalopram. As a result, Clopidrigrel may be less effective in altering platelet activity in those people, who may remain at risk for heart attack, stroke, and cardiovascular death.

By Alyssa Frank • March 31, 2016