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.
A recent article in the Journal Sentinel highlights the importance of newborn screening and what can go wrong in analyzing and interpreting test results.
The recommendations surrounding newborn screening are constantly in flux. Newly discovered treatments or emerging laboratory technologies are enabling additional recommendations for newborn screening.
In cases of sudden or unexpected death, autopsy evaluation can include a biochemical analysis to identify deaths caused by fatty acid oxidation disorders.
The algorithm can be viewed here.
An algorithm is a step-by-step procedure to guide clinicians and laboratorians in appropriate laboratory test ordering.
Analyzing Patients with Mosaic Methylation Patterns of the Prader-Willi/Angelman Syndrome Critical Region
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.
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.
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.