Laboratory Expertise

ARUP’s Allergy and Immunology Division performs more than 300 immunologic tests used in the diagnosis of autoimmune and infectious disorders and immunodeficiencies. Techniques include capillary electrophoresis, multianalyte fluorescent detection, Western blotting, flow cytometry, and neutrophil and lymphocyte function assays. Services include, but are not limited to, allergy and histamine testing, adult and pediatric immunodeficiency testing, neutrophil function testing, complement analysis, immunoglobulin and antibody testing/monoclonal gammopathies, cellular immunodeficiencies, serologic diagnosis (including bacterial, viral, mycoplasma, and parasitic infections), CD4 monitoring, anti-platelet and anti-neutrophil antibodies, fetal hemoglobin detection in fetomaternal hemorrhage, PNH assessment, and autoimmune disease testing.

The Animal Reference Pathology Laboratory specializes in diagnostic veterinary histopathology and cytology, contract research, species-specific testing, and specialty testing. Five full-time veterinary pathologists provide testing to national and international clients. Clients in the United States can have specimens delivered overnight and receive consistent 24-48 hour turnaround time for routine specimens. Results can be delivered in the form that will best suit the needs of the client. International clients can have specimens express delivered and receive consistent 2-4 day turnaround time.

• Testing Information: See Animal Reference Pathology for veterinary diagnostic services and contact information

The goal of this laboratory is to automate processes and tests in order to provide improved turnaround time, efficiency, and quality. While automation is not new, ARUP is successful in automating many of its own esoteric tests from endocrine hormones to tumor markers. Laboratory techniques used by this laboratory include immunoassays, colorimetric assays, and ion-selective electrodes. This laboratory is staffed 24 hours a day, seven days a week, and testing is performed as specimens arrive, not when batch volumes reach a certain size. Therefore, turnaround time can be as rapid as four to five hours from the time of receipt in the laboratory.

The Division of Chemistry performs a wide range of qualitative and quantitative analyses on body fluids such as blood, urine, pleural, interstitial, and spinal fluid, as well as other materials such as tissue, meconium, feces, and calculi. The laboratories comprising this division are defined by either discipline or technology used. High-throughput, automated technologies are heavily used in the Automated Core and Automated Endocrinology Laboratories. This is in contrast with our Trace Elements Laboratory, which houses both the high-throughput technology of ICP-MS and a lower throughput of highly subjective FT-IR technique of calculi analysis. Other laboratories within the Division of Chemistry include Analytic Biochemistry, Biochemical Genetics, Clinical Drug Abuse Testing, Clinical Toxicology, Manual Endocrinology, Mass Spectrometry, Special Chemistry, and Supplemental Newborn Screening.

ARUP Laboratories provides an array of testing to assist physicians and associated health care staff to detect drug abuse and assure compliance with medical use of drugs with abuse potential. The specimens of choice for testing include urine, serum, plasma, and meconium. Urine, serum, and plasma testing are designed to assist by providing evidence that the patient is taking the medication prescribed, evidence that the patient is not taking the medication prescribed, or evidence that the patient has used a controlled substance or other drug not prescribed (e.g., amphetamines, cocaine, marijuana, heroin, etc.).

The cytogenetics laboratory offers chromosome evaluation of prenatal, postnatal, and oncology samples. The cytogenetics and molecular cytogenetics menu includes a wide variety of tests for constitutional clinical indications such as congenital anomalies related to inherited conditions due to aneuploidy (i.e. Down syndrome), microdeletion syndromes such as Prader-Willi, and other chromosomal abnormalities. The laboratory also offers a large menu of molecular cytogenetic probes for the evaluation of hematological malignancies. The newest molecular technique, comparative genomic hybridization (CGH), uses genomic microarray analysis for the detection of chromosomal imbalances in constitutional conditions is also available. In addition, FISH is offered for investigation of a set of medically important trisomies.

• Cytogentics Test Directory

Clients can request consultation for interpretation of endocrine laboratory results or to determine the appropriate tests needed to aid in the diagnosis of clinical endocrine problems. Services include: pediatric and adult functional testing, adrenal cortical, water metabolism, pituitary secretion, gonad responsiveness, thyroid, pancreas, growth status, bone metabolism, endocrine uniformity, and vitamin status. Laboratory techniques include immunoassays (radioimmunoassy, enzyme immunoassay, chemiluminescent immunoassay), HPLC, cultured cell lines, extraction, chromatography, and tandem mass spectrometry. Samples are held for 30 days (60 days for tumor markers), allowing add-on testing to be performed on previously collected specimens.

The fetal risk assessment menu is designed to aid the clinician identify, manage, and follow up high-risk and/or complicated pregnancies. ARUP offers many different testing options to help physicians monitor pregnant patients and their fetuses including all tests recommended by the American College of Obstetrics and Gynecology (ACOG) for fetal aneuploidy screening.

Maternal serum screening is used to detect cases of neural tube defects, trisomy 18, and trisomy 21 (Down syndrome). Down syndrome is the most common serious chromosome disorder, occurring in approximately one in 800 live births. At 25 years of age, the risk at birth of having a child with Down syndrome is about one in 1,250. The risk increases to approximately one in 100 at age 40. Unlike most blood testing, it is the pattern of results in combination with the mother’s age that allows for the estimation of aneuploidy risk, not the specific level of each individual analyte. There are several different maternal screening tests available, including first-trimester (combined), second-trimester, and integrated or sequential screens, which combine first and second trimester screening.

Other prenatal tests available include fetal fibronectin, to predict the risk of preterm labor; fetal lung maturity, to assist clinicians with early deliveries; Rh genotyping; chromosome analysis of amniotic fluid; and prenatal FISH, among others. DNA studies for many genetic disorders are also available either to determine parental carrier status or for fetal diagnosis on amniotic fluid or chorionic villus cells. Genetic counseling services to assist with test selection and interpretation are also available.

• Pediatric Test Directory

The genetics services at ARUP provide a comprehensive menu of testing to assist physicians in the diagnosis of patients with genetic disorders. This comprehensive menu includes tests for inherited metabolic diseases, carrier screening, cytogenetics, inborn errors of metabolism, newborn screening, predisposition assessment, hemoglobinopathy evaluation, red blood cell enzyme disorders, pharmacogenomics, and sequencing.

Autosomal recessive metabolic disorders affect the body’s ability to produce or break down amino acids, organic acids, and fatty acids needed for normal body functions. Early identification of a metabolic disorder may prevent death as well as other serious health problems. The supplemental newborn screening and inborn errors of metabolism menu at ARUP identifies markers for more than 30 metabolic disorders in addition to the state-required initial newborn screen. Confirmation by molecular techniques of some of these disorders, such as MCAD, is also available.

The molecular genetics menu offers more than 25 different DNA tests to assist physicians in the diagnosis of patients with genetic disorders; to identify pre-symptomatic, carrier, and fetal testing; to follow up an abnormal newborn screen; and predictive testing for drug metabolism. 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. Genetic counseling is also available. The latest state-of-the-art technologies are utilized to provide the best quality of service including molecular methods such as RT-PCR, sequencing, molecular cytogenetics, FISH, mass spectrometry, and microarray among others.

Some of the genetic tests performed include fragile X syndrome, DNA testing; cystic fibrosis mutation panel and full gene sequencing; Huntington disease; galactosemia, panel and full gene sequencing; hemochromatosis mutation detection (C282Y, H63D, & S65C); achondroplasia, hypochondroplasia, and thanatophoric dysplasia type I and II; Ashkenazi Jewish disorders; and factor V Leiden by PCR and fluorescence monitoring.

• Testing Information: See full Genetics Test menu and contact information

ARUP performs more than 25,000 assays per month in the Hemostasis/Thrombosis Laboratory, and many are performed daily. Services include comprehensive testing for thrombotic and bleeding disorders; plasminogen and antithrombin; protein C, protein S, and APC resistance; factor assays; inhibitor studies; thrombotic risk panels; von Willebrand studies; factor VIII carrier studies; and platelet aggregation studies.

Patients with significant bleeding or clotting disorders usually have abnormalities that provide clues as to the likely diagnosis. The majority of patients have mild bleeding or clotting symptoms with normal screening laboratory tests and pose a diagnostic challenge. ARUP’s Hemostasis/Thrombosis Laboratory actively develops and publishes protocols for coagulation testing. Interpretation with hemostasis consultation and expedited testing are also available upon request.

• Testing Information: See full Hemostasis/Thrombosis Test menu and contact information

ARUP Laboratories performs a variety of hepatitis and retrovirus (HIV) assays. The Hepatitis and Retrovirus Laboratory is divided into serologic and molecular sections. The serologic and molecular laboratories perform approximately 50,000 and 11,000 tests per month, respectively. The serologic section performs antibody screening and confirmation testing; the molecular section performs viral load testing and organism identification. Testing varies from the highly automated, such as HBV surface antigen and HCV RNA quantitative by real-time PCR, to the esoteric, HTLV Western blot and HIV-1 DNA by PCR. Clinical consultations for result interpretations are available and frequently used.

ARUP offers an extensive menu of infectious diseases testing that complements the laboratory services of hospitals. With full-service analytical capabilities in all microbiology areas of antimicrobial susceptibility testing, bacteriology, mycobacteriology, mycology, parasitology, and virology, ARUP has the capability and expertise to perform an impressive range of testing from the most routine bacterial cultures and serologic antibody assays to the latest in molecular-based techniques, such as real-time qualitative and quantitative PCR, microorganism identification by 16s rDNA sequencing, and viral genotyping. ARUP continually leads the clinical diagnostics field by offering the most up-to-date technology in infectious disease testing.

The bacteriology section performs routine microbiology testing for University of Utah Hospitals as well as referral organism identification and pulsed field gel electrophoresis for bacterial strain typing. The Special Microbiology Laboratory provides full-service mycobacteriology and mycology testing within a biological safety level three suite as well as specialized antimicrobial testing.

The virology section offers spin amplification isolation and/or direct detection of the cultivatable viruses. They also perform viral neutralization serologic tests for Enteroviruses. The parasitology and fecal testing section provides full-service parasitology examination and rapid antigen detection for a variety of pathogens, especially in the areas of enteric and parasitic diseases.

The microbial amplified detection section provides several molecular methods for detection of sexually transmitted diseases. Molecular detection of many pathogens, both qualitative and quantitative assays, are available in the molecular infectious disease and molecular hepatitis/retrovirus sections. A core sequencing laboratory provides viral genotyping, in particular HIV and HCV, as well as sequencing support for all disciplines.

Laboratory consultation is available by the medical directors and faculty from the University of Utah School of Medicine who have expertise in all areas of infectious diseases, parasitology and travel medicine, molecular techniques, virology, and mycology.

ARUP offers an ever increasing menu of testing by tandem mass spectrometry technology. The Mass Spectrometry Laboratory focuses on liquid chromatography tandem mass spectrometry (LC-MS/MS), but also houses gas chromatography (GC/MS) instrumentation. Clinicians and the clinical laboratories are benefiting from recent advances in mass spectrometry technology providing for increased sensitivity and accuracy. ARUP utilizes the most advanced LC-MS/MS instrumentation to provide assays that meet the needs of physicians that require very high sensitivity to aid in their diagnosis. Where traditional immunoassays fall short, the LC-MS/MS can provide increased sensitivity, lower detection limits, and low level accuracy. Assays currently on this testing platform: testosterone in women and children (serum or plasma), adrenal steroids, (serum or plasma), thyroid hormones (free T3 and free T4, serum or plasma), and estrogens (estradiol and estrone, serum or plasma). Mass spectrometry is also utilized in therapeutic drug monitoring for sirolimus and everolimus (whole blood) with a panel test that includes other immunosuppressants in development. Catecholomines (urine) and cortisol (urine) complete the test menu for the Mass Spectrometry Laboratory. Additional assays are in development.

A broad test menu is available to assist in the diagnosis of myasthenia gravis, multiple sclerosis, other sensorimotor neuropathies, and paraneoplastic disease. A variety of test methodologies are employed, including isoelectric focusing, immunofixation electrophoresis, radioimmunoassay, enzyme immunoassay, immunoblot, radioreceptor assay, and IFA. Among the test menu offerings are oligoclonal banding and antibodies to the following: acetylcholine receptor, neuronal and neuronal nucleus, ganglioside-monosialic acid, striated muscle, myelin associate glycoprotein, sulfate-3-glucuronyl paragloboside, and Purkinje cell.

The oncology testing menu offers a wide variety of testing designed to answer important clinical questions in the areas of prediction, diagnosis, prognosis, monitoring, and therapeutic triage of malignancies. The menu includes tests offered by different techniques based on diagnostic criteria and tumor type. Examples include comprehensive hematological disorder evaluation, including leukemia/lymphoma phenotyping by flow cytometry; chromosome analysis and molecular cytogenetics; hematopathology consultation; molecular pathology assays, including minimal residual disease evaluation by FISH or PCR; clonality assessment using several molecular and flow cytometry techniques; and tissue antigen assessment by immunohistochemistry (IHC). There are also disease-specific assays and panels for disease evaluation such as CL and MM panel by FISH.

There are also tests available to identify many tumor-specific mutation or increased protein expression utilizing molecular techniques such as FISH, PCR, and IHC for different sample types. Some of these include, but are not limited to, qualitative and quantitative JAK-2 by PCR for polycythemia vera and HER-2/neu by FISH, IHC, and PCR for increased expression in breast cancer. Diagnostic categories available include, but are not limited to, bladder cancer, breast cancer, colon cancer, Ewing sarcoma, gastrointestinal stromal tumors, glioblastoma, Kaposi sarcoma, neuroblastoma, oligodendroglioma, rhabdosarcoma, and synovial sarcoma.

A large menu of established tumor markers are available, including traditional markers such as CEA, CA-GI, and CA 27,29. New esoteric tumor markers include vascular endothelial growth factor, which detects oncogenic transformation; alpha fetoprotein, total and L3 percent for hepatocellular carcinoma; soluble mesothelian related peptides specific for malignant mesothelioma; and inhibin B, used for ovarian granulosa cell tumor.