Genetics

Our full-service Genetics and Genomics laboratories offer a complete test menu to screen for, diagnose, and monitor genetic disorders, predict and optimize patient response to drug therapies, and detect clinically relevant variants in genes associated with hereditary cancer syndromes.

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ARUP at ACMG 2024

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Why Choose ARUP?

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One Lab, One Test Menu

Find every test you need from one laboratory and one test menu, including related testing in oncology, hematology, and more.

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Expert Consultation

Receive support from our integrated team of board-certified laboratory geneticists and genetic counselors.

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Clinical Relevance

Access testing that is curated for maximum clinical relevance and includes genes with the highest levels of evidence.

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Efficient Turnaround Times

Experience increased efficiency, improved turnaround times, and decreased costs with the latest technology and automation.

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Evolving Test Menu

We continually expand our test menu based on the latest in research, guidelines, and technology.

 

Featured Content

Magnify: Answers Patients Can Trust

Whole Genome Sequencing

Whole genome sequencing provides genome-wide analysis to identify causative variants and diagnose suspected Mendelian genetic conditions. 

Rapid whole genome sequencing provides rapid diagnoses for newborn patients in acute care.

Download the ARUP Genome and Exome Sequencing comparison table.

Decision Support Resources

ARUP Consult® provides guidance on test ordering and results interpretation based on the most up-to-date guidelines. View disease topics, testing algorithms, and Test Fact Sheets.

ARUP Consult Genetics

 

Genetics Testing Areas

Chromosomal Abnormalities (Cytogenetics)

Cytogenetics testing aids in the diagnosis of heritable genetic abnormalities and the detection of acquired abnormalities relevant for the diagnosis, prognosis, therapy, and monitoring of many types of cancer.

Our comprehensive cytogenetics laboratory offers testing for both constitutional and oncology cases, including chromosome analysis, fluorescence in situ hybridization (FISH) analysis, and genomic microarray.


Hereditary Cancer

Our suite of hereditary cancer tests uses next generation sequencing to detect clinically relevant gene variants for many cancer syndromes. Identification of these variants can help providers determine individual and familial cancer risk, develop additional screening and monitoring strategies, and develop treatment plans.


Pharmacogenomic

Pharmacogenomic testing leverages genetic testing to predict a patient’s response to a drug and achieve therapeutic efficacy. We provide affordable, high-throughput testing based on genes with the highest levels of evidence to provide results that will effectively help clinicians manage their patients’ treatment plans.


Noninvasive Prenatal

Our noninvasive prenatal testing (NIPT) uses next generation, whole genome sequencing to assess the risk that a fetus will be born with chromosomal abnormalities. NIPT provides a cost-effective, sensitive, and specific screening option for trisomy 13, trisomy 18, and trisomy 21.


Pregnancy and Prenatal

Our pregnancy and prenatal tests can be used to determine the risk for heritable genetic disease, screen for and diagnose chromosomal abnormalities, and monitor the health of both fetus and mother throughout pregnancy. We also offer diagnostic testing for at-risk pregnancies through our cytogenetics and molecular genetics labs, as well as testing to determine the underlying cause of infertility or pregnancy loss.

Resources

Professional Organizations and Guidelines

Genetic Counseling Services

ARUP’s genetic counselors play an integral role in your patients’ care—from providing guidance on test selection to aiding with result interpretation.

Genetic Counseling Services


Our Experts

Our Genetics Division has a dedicated team of medical directors who guide test development based on the latest research and to maximize clinical relevance.

See Our Experts