Genetics

Fallon Williams and her daughter have similar heart conditions, which do not have a known genetic cause. Williams hopes whole genome sequencing can provide answers and improve cardiac care for all.

February is National Cancer Prevention Month. ARUP Consult provides guidance on hereditary cancer germline genetic testing for early detection and management of inherited cancer syndromes.

Next generation sequencing (NGS) testing detects UBA1 gene mutations, which are essential for the diagnosis of VEXAS syndrome and concurrent hematologic neoplasms.

The ARUP Consult® Fragile X (FMR1)-Associated Disorders topic offers information for providers from numerous medical specialties because of the variety of conditions associated with the FMR1 gene.

The ARUP Consult Laboratory Testing for Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder topic now includes exome and genome sequencing as a first- or second-tier test.

ARUP is committed to continue offering quality, esoteric testing that can aid patients with rare diseases on their often difficult diagnostic journeys.

ARUP medical directors and scientists will discuss the latest in pharmacogenomics, RNA sequencing, and laboratory genetics career pathways at the upcoming ACMG Annual Clinical Genetics Meeting.

The newest edition highlights innovations that keep ARUP at the forefront of toxicology testing. Also featured: ARUP’s expanded capacity for cytogenetics testing.

ARUP Consult, a free source of expert guidance in laboratory testing, has released updated resources on testing for osteoporosis, paraneoplastic pemphigus, and epilepsy.

ARUP Consult, a free source of expert guidance in laboratory testing, has released updated resources on testing for Lyme disease, diagnosing pneumonia, and evaluating infertility.