Genetics

The Genetics Division at ARUP provides a comprehensive test menu to assist physicians in the diagnosis of patients with genetic disorders and offers testing in the disciplines of molecular genetics, cytogenetics, and biochemical genetics. Committed to providing high-quality genetic testing, ARUP continuously expands its test menu as new procedures and markers of clinical utility are identified. Medical directors and genetic counselors are available for pre- and post-test consultation and interpretation.

Consent and patient history forms are available in PDF format in both English and Spanish.

Biochemical Genetics

The Biochemical Genetics Laboratory tests for many metabolic disorders that affect the body’s ability to produce or break down amino acids, organic acids, and fatty acids. Early identification of a metabolic disorder may prevent death as well as other serious health problems; thus, the supplemental newborn screening and inborn errors of metabolism menu at ARUP includes tests for more than 30 metabolic disorders in addition to the state-required initial newborn screen. For some of these disorders, such as MCAD, identification of the causative mutation is also available.

Cytogenetics

The Cytogenetics Laboratory offers classical karyotype analysis on blood, tissue, and fetal specimens to identify constitutional abnormalities for patients with developmental delay, autism, recurrent fetal loss, as well as other indications. Tumor tissue, blood, and bone marrow are examined for evidence of chromosomal changes, which may help predict disease course or determine a course of treatment. Molecular Cytogenetics offers FISH and microarray technology as a complement to classical cytogenetic techniques. The Special Genetics Laboratory offers all four ACOG-recommended maternal serum screening tests, as well as hemoglobinopathy testing.

Special Report: aCGH for the Genetic Evaluation of Patients

Molecular Genetics

The Molecular Genetics Laboratory offers more than 70 different DNA tests, which can be utilized to detect mutation carriers, diagnose genetic disorders, test at-risk fetuses, and identify patients at high risk of developing adult-onset conditions such as Huntington disease or familial cancers. In addition, full-gene analysis is available for tests such as cystic fibrosis, beta globin, and hereditary hemorrhagic telangiectasia. Once the mutation is identified, family-specific mutation is offered.

Maternal Serum Screening

Maternal serum screening tests help identify pregnancies at increased risk for Down syndrome, trisomy 18, or an open neural tube defect such as spina bifida. These tests have traditionally been performed in the second trimester and measure the levels of certain substances in maternal blood. Newer tests now combine first-trimester fetal ultrasound measurements and maternal blood protein levels to predict risk.