October 7, 2017

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.

July 27, 2017

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.

March 28, 2017

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.

March 21, 2017

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.

February 22, 2017

If a genetic disorder is found early in a young child, the person can be monitored and a healthy life may result.

February 8, 2017

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.

January 31, 2017

The identification of skeletal dysplasia symptoms creates a great worry for expectant parents, especially when they learn that some skeletal dysplasias are not compatible with long-term survival.

July 26, 2016

The difference between a blood sample and a lung tissue sample is significant. Until recently, this was not a choice for patients suspected of having a rare form of pulmonary hypertension.

March 2, 2016

Using whole exome sequencing, Rong Mao, MD, and Pinar Bayrak-Toydemir, MD, PhD, discovered a new genetic mutation on the PIEZ01 gene linked to hemolytic anemia with autosomal dominant inheritance.

November 5, 2015

For a patient battling lung cancer, the discomforts and risks of undergoing repeated biopsies, surgeries, and radiologic scans can now be replaced by a far less invasive method.

May 15, 2015

Whitney Wooderchak-Donahue, PhD, was one of six recipients worldwide to receive the grant award from Cure HHT, an international organization that supports HHT patients and their families.

May 7, 2015

ARUP Laboratories, the University of Utah, and the U Huntsman Cancer Institute are spearheading an effort to acquire genetic knowledge with the creation of the open-source BRCA1 and BRCA2 database.