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HHT affects more than 1.4 million people worldwide. But specialists believe this disorder characterized by abnormal blood vessel development is highly underdiagnosed.
Recreational genetic testing is becoming increasingly popular. Should it matter that physicians or genetic counselors are not part of the equation in how consumers interact with these tests?
For National Kidney Month and Trisomy Awareness Month in March, we have past stories from ARUP Laboratories. Our expert list includes scientists with specialties in renal pathology and genetics.
Pipey is ARUP’s new bioinformatics pipeline and cloud-based computer infrastructure for next generation sequencing (NGS) testing.
ARUP has been recognizing the need for well-qualified genetic counselors by hosting a three-week course for students in UUGPGC, where some of ARUP’s genetic counselors are faculty members.
ARUP Laboratories and Applied Spectral Imaging have teamed up to develop and launch PathFusion™, which provides accurate computer-assisted diagnostics for easy FISH validation.
Cytogeneticists arrange and examine the 23 pairs of chromosomes to zero in on genetic variations. This work can aid in diagnosing cancer, autism, recurrent fetal loss, and other congenital anomalies.
Whether genetic testing is ordered in the hospital or at an outpatient clinic, the journey for providers and parents differs depending on the testing strategy.
Even when there is no family history of CF, a person can be a carrier without knowing it. Identifying disease-causing mutations by carrier testing may people find out they are a carrier of CF.
Vascular anomalies are often the result of abnormal development in blood vessels. About one in 5,000 people experiences some kind of vascular anomaly, sometimes as an inherited condition.
If a genetic disorder is found early in a young child, the person can be monitored and a healthy life may result.
Around the U.S., infants entered the world full of life. Those new babies received a heel prick to test their blood and metabolism for abnormalities. That routine is all about early detection.
