genetic testing PATIENTS.ANSWERS.RESULTS. MARCH 2019

Transcription

1 genetic testing PATIENTS.ANSWERS.RESULTS. MARCH 2019 Information in this brochure is current as of March All content is subject to change. Please contact ARUP Client Services at (800) with any questions or concerns.

2

3 ARUP LABORATORIES As a nonprofit, academic institution of the University of Utah and its Department of Pathology, ARUP believes in collaborating, sharing knowledge, and contributing to laboratory science in ways that benefit our clients and their patients. Our test menu is one of the broadest in the industry, encompassing more than 3,000 tests, including highly specialized and esoteric assays. We offer comprehensive testing in the areas of genetics, molecular oncology, pediatrics, and pain management, among others. ARUP s clients include many of the nation s university teaching hospitals and children s hospitals, as well as multihospital groups, major commercial laboratories, and group purchasing organizations. We do not compete with our clients for physician office business, choosing instead to support clients existing test menus by offering highly complex assays and accompanying consultative support so clients can provide exceptional patient care in their local communities. Offering analytics, consulting, and decision support services, ARUP provides clients with the utilization management tools necessary to prosper in this time of value-based care. Our UM+ program helps clients control utilization, reduce costs, and improve patient care. In addition, ARUP is a worldwide leader in innovative laboratory research and development, led by the efforts of the ARUP Institute for Clinical and Experimental Pathology. ARUP s reputation for quality is supported by our ability to meet or exceed the requirements of multiple regulatory and accrediting agencies and organizations. ARUP participates in the CAP laboratory accreditation program and has CLIA certification through the Centers of Medicare and Medicaid Services. In December 2016, ARUP earned accreditation to the ISO 15189:2012 standard under CAP. We believe in collaborating, sharing knowledge, and contributing to laboratory science in ways that provide the best value for the patient. Together, ARUP and its clients will improve patient care today and in the future. patients. answers. results. A laboratory test is more than a number; it is a person, an answer, a diagnosis.

4 ARUP GENETIC MEDICAL DIRECTORS ARCHANA MISHRA AGARWAL, MD Medical Director, Hematopathology and Special Genetics Associate Professor of Pathology, University of Utah School of Medicine ALLEN N. LAMB, PHD, FACMG Medical Director, Cytogenetics and Molecular Cytogenetics Professor of Clinical Pathology, University of Utah School of Medicine ERICA ANDERSEN, PHD, FACMG Section Chief, Cytogenetics and Genomic Microarray Assistant Professor of Pathology, University of Utah School of Medicine K. DAVID LI, MD Medical Director, Hematopathology Assistant Medical Director, Hematologic Flow Cytometry Assistant Professor of Pathology, University of Utah School of Medicine PINAR BAYRAK-TOYDEMIR, MD, PHD, FACMG Medical Director, Molecular Genetics and Genomics Professor of Pathology, University of Utah School of Medicine D. HUNTER BEST, PHD, FACMG Medical Director, Molecular Genetics and Genomics Scientific Director, NGS and Biocomputing Director, High Complexity Platforms NGS Associate Professor of Clinical Pathology, University of Utah School of Medicine BARBARA CHADWICK, MD Medical Director, Cytology Associate Professor of Anatomic Pathology, University of Utah School of Medicine NICOLA LONGO, MD, PHD Chief, Medical Genetics Division Medical Director, Biochemical Genetics and Newborn Screening Professor of Pediatrics and Adjunct Professor of Pathology, University of Utah School of Medicine RONG MAO, MD, FACMG Section Chief, Molecular Genetics and Genomics Professor of Pathology and Co-director of the Clinical Molecular Genetics Fellowship Program, University of Utah School of Medicine RODNEY MILES, MD, PHD Section Chief, Hematopathology Medical Director, Hematologic Flow Cytometry Associate Professor of Pathology, University of Utah School of Medicine JULIE LEANA COX, PHD, FACMG Medical Director, Cytogenetics IRENE DE BIASE, MD, PHD, FACMG Medical Director, Biochemical Genetics and Newborn Screening Assistant Professor of Pathology, University of Utah School of Medicine H. EVIN GULBAHCE, MD Medical Director, Surgical Pathology and Oncology Professor of Pathology, University of Utah School of Medicine MARZIA PASQUALI, PHD Medical Director, Biochemical Genetics and Newborn Screening; Section Chief, Biochemical Genetics Professor of Pathology and Co-director of the Fellowship Training Program in Biochemical Genetics, University of Utah School of Medicine JAY PATEL, MD Medical Director, Molecular Oncology Medical Director, Genomics Medical Director, Hematopathology Associate Professor of Pathology, University of Utah School of Medicine SHERRIE PERKINS, MD, PHD Chief Executive Officer Tenured Professor of Pathology, University of Utah School of Medicine JUDITH HOBERT, PHD Medical Director, Biochemical Genetics and Newborn Screening Assistant Professor of Clinical Pathology, University of Utah School of Medicine DENISE QUIGLEY, PHD, FACMG Medical Director, Cytogenetics BO HONG, MD, FACMG Medical Director, Cytogenetics and Genomic Microarray Assistant Professor of Pathology, University of Utah School of Medicine ROGER SCHULTZ, PHD, FACMG Medical Director, Cytogenetics and Molecular Cytogenetics YUAN JI, PHD, DABCP, FACMG Medical Director, Molecular Genetics and Genomics Medical Director, Pharmacogenomics Assistant Professor of Pathology, University of Utah School of Medicine STEVEN STEINBERG, PHD, FACMG Medical Director, Clinical Molecular Genetics 2 For more on Genetics, including white papers and additional technical information, please visit

5 ARUP GENETIC MEDICAL DIRECTORS REHA TOYDEMIR, MD, PHD, FACMG Medical Director, Cytogenetics and Genomics Assistant Professor of Pathology, University of Utah School of Medicine TATIANA YUZYUK, PHD Medical Director, Newborn Screening and Biochemical Genetics Assistant Professor of Pathology, University of Utah School of Medicine BENJAMIN WITT, MD Section Head, Cytopathology Assistant Professor of Anatomic Pathology, University of Utah School of Medicine XINJIE XU, PHD, FACMG Medical Director, Cytogenetics and Genomic Microarray Medical Director, Molecular Hematopathology/Oncology Assistant Professor of Pathology, University of Utah School of Medicine ARUP GENETIC COUNSELOR SERVICE HANNAH ANDERSON, MS, LCGC Molecular Genetics and Maternal Serum Screening KARIANNE HERDMAN Genetic Counselor Support Specialist Genetics ZOE LEWIS, MS, LCGC Cytogenetics ERIN BALDWIN, MS, LCGC Manager, Genetic Counselor Services MISTY JENKINS Genetic Counselor Support Specialist Biochemical Genetics JAMIE MCDONALD, MS, LCGC Hereditary Hemorrhagic Telangiectasia SHELLY BOSWORTH, MS, LCGC Cytogenetics and Maternal Serum Screening MARCIA JODAH, MS, LCGC Molecular Genetics CHRISTINE MILLER, MS, LCGC Molecular Genetics VALERIE COLLIER, MS, LCGC Molecular Genetics PATTI KRAUTSCHEID, MS, LCGC Molecular Genetics AMANDA OPENSHAW, MS, LCGC Cytogenetics and Maternal Serum Screening ELENA COUPAL, MS, LCGC Molecular and Biochemical Genetics DANIELLE LAGRAVE, MS, LCGC Cytogenetics and Maternal Serum Screening SAMANTHA WILEY, MS, LCGC Molecular Genetics STEPHANIE FRANCIS, MS, LCGC Molecular Genetics EVERETT LALLY, MS, LCGC Cytogenetics and Maternal Serum Screening 3

6 NEW TESTS (November hot line) Capillary Malformation-Arteriovenous Malformation 2 (EPHB4) Sequencing Capillary Malformation-Arteriovenous Malformation (EPHB4 and RASA1) Sequencing and (RASA1) HLA-B*58:01 Genotyping, Allopurinol Hypersensitivity MATERNAL SERUM SCREENING Maternal serum screening (MSS) testing at ARUP is offered to help identify pregnancies at increased risk for Down syndrome, trisomy 18, or open neural tube defects such as spina bifida. ARUP offers all MSS testing recommended by the American College of Obstetrics and Gynecology. Second trimester-only tests measure the levels of specific protein markers in maternal blood to predict Combined First- and Second-Trimester Screening Maternal Serum Screen Sequential, Specimen Maternal Serum Screen Sequential, Specimen Maternal Serum Screen Integrated, Specimen Maternal Serum Screen Integrated, Specimen 2 First-Trimester Screening Maternal Serum Screen First Trimester risk. First trimester-only and cross-trimester tests combine fetal ultrasound measurements* along with measurements of biochemical markers in maternal blood to predict risk. * Sonographer providing NT measurement must be certified by NTQR (SMFM) or FMF. Please contact a genetic counselor at (800) , ext. 2141, prior to sending first sample to ensure acceptability. Non-Invasive Prenatal Screening Non-Invasive Prenatal Testing for Fetal Aneuploidy Non-Invasive Prenatal Testing for Fetal Aneuploidy with Microdeletions Non-Invasive Prenatal Testing for Fetal Aneuploidy with 22q11.2 Microdeletion Second-Trimester Screening Maternal Serum Screen AFP Maternal Serum Screen Quad Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin 4 For more on Genetics, including white papers and additional technical information, please visit

7 BIOCHEMICAL GENETICS The Biochemical Genetics Laboratory performs testing on a variety of biological specimens to aid in the identification of aminoacidopathies, organic acidemias, fatty acid oxidation disorders, and other inherited metabolic diseases. Early identification of a metabolic disorder may prevent death, as well as other serious health problems. of organic acids, acylcarnitine profile, and various other assays to diagnose suspected inborn errors of metabolism or confirm abnormal newborn screen results. Consultation with ARUP s genetic counselors or medical directors is available. Available tests include amino acid quantitation, assessment Acylcarnitine, Quantitative Profile, Plasma Acylglycine, Quantitative, Urine Alpha-Iduronidase Enzyme Activity in Leukocytes Amino Acids Quantitative, CSF Amino Acids Quantitative by LC-MS/MS, Plasma Amino Acids Quantitative by LC-MS/MS, Urine Autism and Intellectual Disability Comprehensive Panel Autism and Intellectual Disability Metabolic Panel Biotinidase, Serum (with paired normal control) Carnitine, Free and Total, Plasma Carnitine, Free and Total, Urine Carnitine, Free, Plasma Carnitine Panel (Free and Total Carnitine, Acylcarnitine), Plasma or Serum Carnitine, Total, Plasma Creatine Disorders Panel, Plasma or Serum Creatine Disorders Panel, Urine Cystine Quantitative, Urine Cystinuria Panel (Arginine, Cystine, Lysine, and Ornithine), Urine Ehlers-Danlos Syndrome Type VI Screen, Urine Fatty Acids Profile, Essential Serum and Plasma Galactose-1-Phosphate in Red Blood Cells Galactose-1-Phosphate Uridyltransferase, Whole Blood Galactosemia Panel (Enzyme and DNA Testing for 7 s and 2 Variants), Whole Blood Gaucher Disease (GBA), Enzyme Activity in Leukocytes Glutarylcarnitine Quantitative, Urine Hexosaminidase A and Total Hexosaminidase in Plasma with Reflex to Hexosaminidase A and Total Hexosaminidase in Leukocytes Hexosaminidase A and Total Hexosaminidase, Leukocytes Hexosaminidase A and Total Hexosaminidase, Plasma or Serum Keratan Sulfate, Quantitative by LC-MS/MS, Urine Lysosomal Acid Lipase Activity, Dried Blood Spot Methylmalonic Acid, Serum or Plasma (Metabolic Disorders) Mucopolysaccharides Electrophoresis and Quantitation, Urine Mucopolysaccharides, Quantitative, Urine Mucopolysaccharidosis Type I, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma Mucopolysaccharidosis Type I, Total HS and NRE (Sensi-Pro) Quantitative, Urine Mucopolysaccharidosis Type II, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma Mucopolysaccharidosis Type II, Total HS and NRE (Sensi-Pro) Quantitative, Urine Orotic Acid, Urine Organic Acids, Urine Phenylalanine and Tyrosine, Plasma (monitoring only) Phenylalanine Monitoring, Plasma (monitoring only) Pipecolic Acid, Serum or Plasma Pipecolic Acid, Urine Pompe Disease (GAA), Enzyme Activity in Leukocytes Pyridinoline and Deoxypyridinoline by HPLC, Urine Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma Pyridoxine-Dependent Epilepsy Panel, Urine Succinylacetone, Quantitative, Urine Tyrosine, Plasma (monitoring only) Very Long-Chain and Branched-Chain Fatty Acids Profile 5

8 CYTOGENETICS AND GENOMIC MICROARRAY ARUP performs microarray, chromosome, and FISH analysis for both constitutional and cancer diagnoses. Patients with indications such as developmental delay, autism, recurrent fetal loss, and multiple congenital anomalies have the option of tests ranging from classic karyotype analysis, FISH studies for specific microdeletion/microduplication syndromes, or microarray. Constitutional/Postnatal Testing Aneuploidy Panel by FISH Chromosome Analysis, Peripheral Blood Chromosome Analysis, Peripheral Blood, with Reflex to Genomic Microarray Chromosome Analysis, Products of Conception Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray Chromosome Analysis, Rule Out Mosaicism Chromosome Analysis, Skin Biopsy Chromosome FISH, Metaphase Chromosome Analysis, Breakage, Ataxia Telangiectasia, Whole Blood Chromosome Analysis, Breakage, Fanconi Anemia Cytogenomic SNP Microarray Cytogenomic SNP Microarray Buccal Swab Patients with confirmed or suspected cancer diagnoses have microarray, chromosome, and FISH analyses available to them. These studies may help determine the specific type of cancer present, predict disease course, determine a course of treatment, and enable physicians to monitor treatment effectiveness and look for residual disease post-treatment. Oncology Chromosome Analysis, Bone Marrow Chromosome Analysis, Bone Marrow, with Reflex to Genomic Microarray Chromosome Analysis, Leukemic Blood Chromosome Analysis, Leukemic Blood with Reflex to Genomic Microarray Chromosome Analysis, Lymph Node Chromosome Analysis, Solid Tumor Cytogenomic Molecular Inversion Probe Array, FFPE Tissue Oncology Cytogenomic SNP Microarray Oncology Prenatal Testing Chorionic Villus, FISH (aneuploidy panel) Chromosome FISH, Prenatal (aneuploidy panel) Chromosome Analysis, Amniotic Fluid Cytogenomic SNP Microarray, with Five-Cell ChromosomeStudy, Peripheral Blood Chromosome Analysis, Amniotic Fluid, with Reflex to Genomic Microarray Autism and Intellectual Disability Comprehensive Panel Cytogenomic Molecular Inversion Probe Array, FFPE Tissue Products of Conception Genomic SNP Microarray, Products of Conception Chromosome Analysis, Chorionic Villus Chromosome Analysis, Products of Conception Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray Chromosome FISH, Chorionic Villus with Reflex to Chromosome Analysis or Genomic Microarray Cytogenomic SNP Microarray Fetal 6 For more on Genetics, including white papers and additional technical information, please visit

9 CONSTITUTIONAL FISH PROBES Suspected Diagnosis Probe Target Gene(s)/Unique Sequence Aneuploidy, Common (ARUP test code ) 13/18/21/X/Y Microdeletion Syndromes order test p- 4p16.3 WHSC1 5p- 5p15.2 D5S23-D5S721 15q duplication 15q D15S11, D15S10 22qter deletion 22q qtel (SHANK3) Angelman 15q D15S10 Cri-du-chat 5p15.2 D5S23-D5S721 DiGeorge 22q11.2 TUPLE-1 (HIRA) Kallmann Xp22.3 KAL1 Male detection (SRY) Yp11.3 SRY Miller-Dieker (Lissencephaly) 17p13.3 LIS1 Phelan-McDermid 22q qtel (SHANK3) Prader-Willi 15q D15S10 SHOX Xp22.3 SHOX Smith-Magenis 17p11.2 SHMT1-TOP3-FL11-LLGL1 SRY Yp11.3 SRY Steroid sulfatase deficiency (STS, X-linked ichthyosis) Xp22.3 STS Velocardiofacial (VCF) 22q11.2 TUPLE-1 (HIRA) Williams (Elastin) 7q11.23 ELN-LIMK1-D7S613 Wolf-Hirschhorn 4p16.3 WHSC1 Miscellaneous (Please contact the lab prior to ordering) order test or Suspected Diagnosis Probe Target Gene(s)/Unique Sequence Acrocentric p-arm NOR regions of all acrocentric chromosomes X centromere Xcen DXZ1 X inactivation locus Xq13 XIST Y centromere Ycen DYZ3 Yp11.3 Yp11.3 SRY Yq12 Yq12 DYZ1-YsatIII 7

10 ONCOLOGY FISH TESTING SERVICES Testing provided by the ARUP Cytogenetics Laboratory Chromosome FISH, Interphase Multiple Myeloma Panel by FISH Chromosome FISH, CLL Panel Myeloproliferative Disorders Panel by FISH PML-RARA Translocation by FISH Eosinophilia Panel by FISH Acute Myelogenous Leukemia Panel by FISH Acute Lymphocytic Leukemia Panel by FISH, Adult Acute Lymphocytic Leukemia Panel by FISH, Pediatric Lymphoma (Aggressive) Panel by FISH AML with MDS or Therapy Related AML by FISH Myelodysplastic Syndrome Panel by FISH *EWSR1 Break Apart Rearrangement by FISH *SYT Rearrangement by FISH Ph-Like Acute Lymphocytic Leukemia (ALL) Panel by FISH Testing provided by the ARUP Cytopathology Laboratory Pancreatobiliary FISH UroVysion FISH * FISH probes can be tested on touch prep samples. Testing provided by the ARUP Immunohistochemistry Laboratory on Paraffin-Embedded Tissue p/19q Deletion by FISH ALK Gene Rearrangements by FISH, Lung BCL6 (3q27) Gene Rearrangement by FISH DDIT3 (CHOP) (12q13) Gene Rearrangement by FISH EGFR Gene Amplification by FISH ERBB2 (HER-2/neu) Gene Amplification by FISH with Reflex EWSR1 (22q12) Gene Rearrangement by FISH FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH FUS (16p11) Gene Rearrangement by FISH IGH-BCL2 Fusion, t(14;18) by FISH for Detection in Follicular Lymphoma IGH-CCND1 Fusion, t(11;14) by FISH for Detection in Mantle Cell Lymphoma IGH-MYC Fusion, t(8;14) by FISH for Detection in Burkitt Lymphoma MDM2 Gene Amplification by FISH MYC (8q24) Gene Rearrangement by FISH MYCN (N-MYC) Gene Amplification by FISH ROS1 by FISH SS18 (SYT) (18q11) Rearrangement by FISH Refer to the aliases under test code on the Laboratory Test Directory on the ARUP website for a complete list of available probes. 8 For more on Genetics, including white papers and additional technical information, please visit

11 ONCOLOGY FISH To order individual probes, use ARUP test code , Chromosome, FISH Interphase, and specify the desired probe(s). Testing provided by the ARUP Cytogenetics Laboratory FISH PROBES AVAILABLE FOR ONCOLOGY SAMPLES Indication Probe Target Gene(s)/Unique Sequence Adult: q24 t(9;22)(q34;q11.2) 11q23 MYC BCR-ABL1 KMT2A (MLL) Acute Lymphocytic Leukemia Panel (ALL) 14q32 IGH 19p13 TCF3 (E2A) +4,+10 CEP4, CEP10 Pediatric: Acute Myelogenous Leukemia Panel (AML): Acute Myelogenous Leukemia with Myelodysplastic Syndrome or Therapy-Related AML Panel: t(9;22)(q34;q11.2) 11q23 t(12;21)(p13;q22) t(15;17)(q24;q21) t(8;21)(q22;q22) inv(16)(p13.3q22) 11q23 inv(3) or t(3;3) del(5)(q31) del(7)(q31)/-7 del(5)(q31) del(7)(q31)/-7 11q23 del(11)(q22.3) BCR-ABL1 KMT2A (MLL) ETV6-RUNX1 (TEL-AML1) PML-RARA RUNX1T1-RUNX1 (ETO-AML1) CBFB KMT2A (MLL) RPN1/MECOM (EVI1) EGR1 D7S486 EGR1 D7S486 KMT2A (MLL) ATM Chronic Lymphocytic Leukemia Panel (CLL): D12Z3 del(13)(q14.3) D13S319 del(17)(p13.1) TP53 (p53) Chronic Myelogenous Leukemia (CML): t(9;22)(q34;q11.2) BCR-ABL1, ASS1 4q12 PDGFRA-CHIC2-FIP1L1 Eosinophilia Panel: q33.1 PDGFRB 8p12 FGFR1 Lymphoma (Aggressive) Panel: inv(16) 3q27 8q24 t(14;18)(q32;q21) CBFB BCL6 MYC IGH-BCL2 9

12 ONCOLOGY FISH continued Testing provided by the ARUP Cytogenetics Laboratory FISH PROBES AVAILABLE FOR ONCOLOGY SAMPLES Indication Probe Target Gene(s)/Unique Sequence Burkitt 8q24 MYC Diffuse large cell 3q27 BCL6 Lymphoma (probes ordered individually as test code ) Follicular t(14;18)(q32;q21) IGH-BCL2 IgH rearrangement 14q32 IGH Mantle cell t(11;14)(q13;q32) IGH-CCND1 MALT 18q21 MALT1 1q21 CKS1B +9 ASS1 t(11;14)(q13;q32) 14q32 IGH-CCND1 IGH rearrangement Multiple Myeloma Panel: PML del(17)(p13.1) TP53 (p53) NOTE: If IGH is positive, additional testing will include: t(4;14)(p16;q32) t(14;16)(q32;q23.1) del(5)(q31) IGH-FGFR3 IGH-MAF EGR1 Myelodysplastic Syndrome Panel (MDS): del(7)(q31)/-7 D7S CEP8 del(20)(q12) 4q12 D20S108 PDGFRA-CHIC2-FIP1L1 Myeloproliferative Disorder Panel (MPD): q33.1 PDGFRB 8p12 FGFR1 t(9;22)(q34;q11.2) Xp22.33/Yp p24 BCR-ABL1 CRLF2 JAK2 19p13.2 EPOR Ph-Like Acute Lymphocytic Leukemia (ALL) Panel: q32 CSF1R 9q34.1 ABL1 1q25.2 ABL2 5q33.1 PDGFRB Sarcoma: Synovial 18q11.2 SS18 (SYT) Ewing 22q12.2 EWSR1 Myxoid Liposarcoma: q13 DDIT3 (CHOP) Alveolar Rhabdomyosarcoma: q13 FKHR (FOX01) 10 For more on Genetics, including white papers and additional technical information, please visit

13 MOLECULAR GENETICS WITH SEQUENCING, FRAGMENT ANALYSIS, AND GENOMICS The Molecular Genetics Department at ARUP provides a comprehensive test menu to assist physicians in the diagnosis of patients with inherited genetic disorders. The laboratory offers diagnostic testing, carrier screening for common genetic conditions, fetal testing, presymptomatic testing, molecular confirmation of abnormal newborn screening results, assessment for genetic variants affecting drug metabolism (pharmacogenetics), and multi-gene panels. The molecular genetics menu offers diagnostic testing for more than 60 different conditions. Disorders for which molecular genetic testing is available include: cystic fibrosis, fragile X, alpha and beta thalassemia, Huntington disease, hemophilia A and B, hearing loss, hereditary hemorrhagic telangiectasia, hereditary non-polyposis colon cancer, pancreatitis, Rett syndrome, hemochromatosis, factor V leiden, and common Ashkenazi Jewish disorders. Once a causative mutation is identified, targeted testing for the familial mutation can be requested for at-risk family members. Pharmacogenetic testing may identify genetic variants influencing the metabolism or efficacy of commonly prescribed drugs. Available pharmacogenetic tests include: tamoxifen (CYP2D6), irinotecan (UGT1A1), warfarin (CYP2C9 and VKORC1), and numerous others. Many of the hemoglobin-related tests supplement genetic testing for hemoglobinopathies/thalassemias, and include Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility, Oxygen Dissociation (P50) by Hemoximetry, and Hemoglobin Evaluation Reflexive Cascade. ARUP s genetic counselors are available to answer questions regarding test selection or interpretation. MOLECULAR GENETICS MULTI-GENE PANELS (GENOMICS) Aortopathy Panel, Sequencing and Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Cardiomyopathy and Arrhythmia Panel, Sequencing and Hereditary Renal Cancer Panel, Sequencing and Deletion/ Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing *Holoprosencephaly Panel, Sequencing and Deletion/ Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/ with Reflex to Sequencing Panel Childhood-Onset Epilepsy Panel, Sequencing and Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/ Exome Sequencing, Proband Exome Sequencing, Trio Expanded Hearing Loss Panel, Sequencing and Deletion/ Hereditary Breast and Ovarian Cancer Panel, Sequencing and Hereditary Cancer Panel, Sequencing and Deletion/ Hereditary Gastrointestinal Cancer Panel, Sequencing and Hereditary Hemolytic Anemia Panel, Sequencing Infantile Epilepsy Panel, Sequence Analysis and Exon- Level Mitochondrial Disorders (mtdna) Sequencing Mitochondrial Disorders Panel (mtdna Sequencing, Nuclear Genes Sequencing and ) *Noonan Spectrum Disorders Panel, Sequencing Periodic Fever Syndromes Panel, Sequencing and Primary Antibody Deficiency Panel, Sequencing and Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Rapid Mendelian Genes Sequencing Panel, Trio Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and *Skeletal Dysplasia Panel, Sequencing and Deletion/ Vascular Malformations Panel, Sequencing and Deletion/ 11

14 MOLECULAR GENETICS WITH GENETIC SEQUENCING AND FRAGMENT ANALYSIS ABCC8-Related Hyperinsulinism, 3 Variants *Achondroplasia (FGFR3) 2 s Adrenoleukodystrophy, X- Linked (ABCD1) Sequencing Adrenoleukodystrophy, X-Linked (ABCD1) Sequencing and Alpha-1-Antitrypsin and A1A Genotype with Reflex to Phenotype Alpha Globin (HBA1 and HBA2) Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/ *Alpha Thalassemia HBA1 and HBA2 Gene Deletions *Alpha Thalassemia HBA1 and HBA2 Sequencing, Alport Syndrome, X-linked (COL4A5) 3 s Alport Syndrome, X-linked (COL4A5) Sequencing Alport Syndrome, X-linked (COL4A5) Sequencing and *Alport Syndrome, X-linked (COL4A5) Sequencing, Familial Angelman Syndrome and Prader-Willi Syndrome by Methylation-Sensitive PCR Angelman Syndrome and Prader-Willi Syndrome by Methylation-Sensitive PCR, Fetal Angelman Syndrome (UBE3A) Sequencing *Angelman Syndrome (UBE3A) Sequencing, Familial Ankylosing Spondylitis (HLAB27) Genotyping APC Resistance Profile with Reflex to Factor V Leiden Apolipoprotein B Detection Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk Arginine:Glycine Amidinotransferase (GATM) Deficiency sequencing Ashkenazi Jewish Diseases, 16 Genes ATP7A-Related Copper Transport Disorders (ATP7A) Sequencing ATP7A-Related Copper Transport Disorders (ATP7A) Sequencing and *ATP7A-Related Copper Transport Disorders (ATP7A) Sequencing, Autism and Intellectual Disability Comprehensive Panel (includes Fragile X (FMR1) PCR with Reflex to Methylation Analysis) Beta-2-Adrenergic Receptor Haplotyping *Beta Globin Gene s for HbS, HbC, and HbE by PCR *Beta Globin (HBB) Sequencing *Beta Globin (HBB) Sequencing, Beta Globin (HBB) Sequencing and Biotinidase Deficiency (BTD) 5 s Biotinidase Deficiency (BTD) Sequencing *Biotinidase Deficiency (BTD) Sequencing, Familial Blood Group Genotyping by Microarray *Bloom Syndrome (BLM), 1 Variant BRAF V600E with Reflex to MLH1 Promoter Methy lation, Paraffin Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and *Canavan Disease (ASPA), 4 Variants Capillary Malformation-Arteriovenous Malformation 2 (EPHB4) Sequencing Capillary Malformation-Arteriovenous Malformation (EPHB4 and RASA1) Sequencing and (RASA1) Deletion/ Carnitine Deficiency, Primary (SLC22A5) Sequencing Carnitine Deficiency, Primary (SLC22A5) Sequencing and *Carnitine Deficiency, Primary (SLC22A5) Sequencing, CDKL5-Related Disorders (CDKL5) Sequencing CDKL5-Related Disorders (CDKL5) Sequencing and *CDKL5-Related Disorders (CDKL5) Sequencing, Familial Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL (NOTCH3), Sequencing * Cerebral Cavernous Malformation (CCM1, CCM2, or CCM3) Sequencing, 12 For more on Genetics, including white papers and additional technical information, please visit

15 MOLECULAR GENETICS WITH GENETIC SEQUENCING AND FRAGMENT ANALYSIS continued Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 with Reflex to Sequencing Panel Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP CHARGE Syndrome (CHD7) Sequencing CHARGE Syndrome (CHD7) Sequencing, Fetal Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion) Chronic Granulomatous Disease (NCF1) Exon 2 GT Deletion Chronic Granulomatous Disease, X-Linked (CYBB) Sequencing Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion) Citrin Deficiency (SLC25A13) Sequencing *Citrin Deficiency (SLC25A13) Sequencing, Familial Citrullinemia, Type I (ASS1) Sequencing *Citrullinemia, Type I (ASS1) Sequencing, Familial Creatine Transporter Deficiency (SLC6A8) Sequencing Creatine Transporter Deficiency (SLC6A8) Sequencing and Cystic Fibrosis (CFTR) 165 Pathogenic Variants Cystic Fibrosis (CFTR) 165 Pathogenic Variants, Fetal Cystic Fibrosis (CFTR) 165 Pathogenic Variants with Reflex to Sequencing Cystic Fibrosis (CFTR) 165 Pathogenic Variants with Reflex to Sequencing and Reflex to Cystic Fibrosis (CFTR) Sequencing *Cystic Fibrosis (CFTR) Sequencing, Cystic Fibrosis (CFTR) Sequencing with Reflex to Cystic Fibrosis Cis-Trans (CFTR) R117H and 5T s Duchenne/Becker Muscular Dystrophy (DMD) Deletion/ Duchenne/Becker Muscular Dystrophy (DMD) Deletion/, Fetal Duchenne/Becker Muscular Dystrophy (DMD) Sequencing Dysautonomia, Familial (IKBKAP), 2 Variants Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and *Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing, Expanded Carrier Screen by Next Generation Sequencing Expanded Carrier Screen by Next Generation Sequencing with Fragile X Expanded Carrier Screen Genotyping Expanded Carrier Screen Genotyping with Fragile X Factor V Leiden (F5) R506Q Factor V, R Factor XIII (F13A1) V34L Familial Adenomatous Polyposis (APC) Sequencing *Familial Adenomatous Polyposis (APC) Sequencing, Familial Adenomatous Polyposis Panel: APC Sequencing, APC, and MYH 2 s Familial Mediterranean Fever (MEFV) Sequencing *Familial Mediterranean Fever (MEFV) Sequencing, *, Targeted Sequencing , Targeted Sequencing, Fetal Familial Transthyretin Amyloidosis (TTR) Sequencing *Fanconi Anemia Group C (FANCC) 2 s Fragile X (FMR1) PCR with Reflex to Methylation Analysis Fragile X (FMR1) PCR with Reflex to Methylation Analysis, Fetal Freeman-Sheldon Syndrome (MYH3) Sequencing Exon *Galactosemia (GALT) 9 s Galactosemia (GALT) Enzyme Activity and 9 s Galactosemia (GALT) Sequencing *Galactosemia (GALT) Sequencing, *Gaucher Disease (GBA), 8 Variants Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation Glaucoma, Primary Congenital (CYP1B1) Sequencing Duchenne/Becker Muscular Dystrophy (DMD) Deletion/ with Reflex to Sequencing *Glaucoma, Primary Congenital (CYP1B1) Sequencing, 13

16 MOLECULAR GENETICS WITH GENETIC SEQUENCING AND FRAGMENT ANALYSIS continued GLI3-related disorders (GLI3) Sequencing GLI3-Related Disorders (GLI3) Sequencing and Deletion/ Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing *Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing, Glucose-6-Phosphate Dehydrogenase (G6PD) 2 s, African Alleles Glycogen Storage Disease, Type 1A (G6PC), 9 Variants Guanidinoacetate Methyltransferase (GAMT) Deficiency Sequencing Haptoglobin (HP) Genotyping Hearing Loss, Nonsyndromic, Connexin 26 (GJB2) Sequencing *Hearing Loss, Nonsyndromic, Connexin 26 (GJB2) Sequencing, Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions Hearing Loss, Nonsyndromic, Mitochondrial DNA 2 s Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, 2 Deletions, and Mitochondrial DNA, 2 s Hemochromatosis, Hereditary (HFE) 3 s Hemoglobin Evaluation Reflexive Cascade Hemoglobin Lepore (HBD-HBB Fusion) 3 s Hemoglobin S, Sickle Solubility *Hemophilia A (F8) 2 Inversions Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Hemophilia A (F8) Sequencing *Hemophilia A (F8) Sequencing, Hemophilia B (F9) Sequencing Hemophilia B (F9) Sequencing and *Hemophilia B (F9) Sequencing, Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/ *Hereditary Hemorrhagic Telangiectasia (ACVRL1 or ENG) Sequencing, Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and *Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing, Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and *Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing, Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Hereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing *Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing, HNPCC/Lynch Syndrome (MLH1) Sequencing and HNPCC/Lynch Syndrome (MSH2) Sequencing and HNPCC/Lynch Syndrome (MSH6) Sequencing and HNPCC/Lynch Syndrome (PMS2) Sequencing and *HNPCC/Lynch Syndrome Sequencing, HNPCC/Microsatellite Instability by IHC Huntington Disease (HD) by PCR Hypochondroplasia (FGFR3) 2 s Inherited Insulin Resistance Syndromes (INSR) Sequencing *Inherited Insulin Resistance Syndromes (INSR) Sequencing, Joubert Syndrome Type 2 (TMEM216), 1 Variant Juvenile Polyposis (BMPR1A) Sequencing Juvenile Polyposis (BMPR1A) Sequencing and Deletion/ *Juvenile Polyposis (BMPR1A) Sequencing, Familial Juvenile Polyposis (SMAD4) Sequencing Juvenile Polyposis (SMAD4) Sequencing and Deletion/ *Juvenile Polyposis (SMAD4) Sequencing, Familial Kabuki Syndrome (KMT2D) Sequencing Kell Antigen Genotyping (KEL1-KEL2) 14 For more on Genetics, including white papers and additional technical information, please visit

17 MOLECULAR GENETICS WITH GENETIC SEQUENCING AND FRAGMENT ANALYSIS continued Legius Syndrome (SPRED1) Sequencing Legius Syndrome (SPRED1) Sequencing and Deletion/ MUTYH-Associated Polyposis (MUTYH) 2 s with Reflex to Sequencing MUTYH-Associated Polyposis (MUTYH) Sequencing *Legius Syndrome (SPRED1) Sequencing, Familial *MUTYH-Associated Polyposis (MUTYH) Sequencing, Li-Fraumeni (TP53) Sequencing Li-Fraumeni (TP53) Sequencing and Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants LMNA-Related Disorders (LMNA) Sequencing MYH-Associated Polyposis (MYH) 2 s Narcolepsy (HLA-DQB1*06:02) Genotyping NEB-Related Nemaline Myopathy, 1 Variant Neurofibromatosis Type 1 (NF1) Sequencing *LMNA-Related Disorders (LMNA) Sequencing, Familial Neurofibromatosis Type 1 (NF1) Sequencing and Loeys-Dietz Syndrome (TGFBR1 and TGFBR2) Sequencing *Loeys-Dietz Syndrome (TGFBR1 or TGFBR2) Sequencing, Maple Syrup Urine Disease, Type 1B (BCKDHB), 3 Variants Marfan Syndrome, FBN1 Sequencing Marfan Syndrome, FBN1 Sequencing and Deletion/ *Marfan Syndrome, FBN1 Sequencing, Maternal T Cell Engraftment in SCID Maternal T Cell Engraftment in SCID, Maternal Specimen Maternal T Cell Engraftment in SCID, Pre-Engraftment Specimen Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) 2 s Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing *Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing, Methylenetetrahydrofolate Reductase (MTHFR) 2 s Mismatch Repair by IHC with Reflex to MLH1 Promoter Methylation Molar Pregnancy, 16 DNA Markers *Mucolipidosis Type IV (MCOLN1) 2 Variants Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and *Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing, Multiple Endocrine Neoplasia, Type 2 (RET) Sequencing Exons 10, 11, *Multiple Endocrine Neoplasia Type 2 (RET) Sequencing, *Neurofibromatosis Type 1 (NF1) Sequencing, Familial *Niemann-Pick, Type A (SMPD1) 4 Variants Non-Invasive Prenatal Testing for RHD Genotyping, Fetal Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping *Noonan Syndrome (PTPN11 or SOS1) Sequencing, Noonan Syndrome (PTPN11) Sequencing Noonan Syndrome (PTPN11) Sequencing with Reflex to SOS1 Sequencing Noonan Syndrome (SOS1) Sequencing Ornithine Transcarbamylase Deficiency (OTC) Sequencing Ornithine Transcarbamylase Deficiency (OTC) Sequencing and *Ornithine Transcarbamylase Deficiency (OTC) Sequencing, Pancreatitis (CTRC) Sequencing Pancreatitis, Panel (CTRC, CFTR, PRSS1, SPINK1) Sequencing Pancreatitis (PRSS1) Sequencing *Pancreatitis (PRSS1) Sequencing, Pancreatitis (SPINK1) Sequencing *Pancreatitis (SPINK1) Sequencing, Peutz-Jeghers Syndrome (STK11) Sequencing Peutz-Jeghers Syndrome (STK11) Sequencing and *Peutz-Jeghers Syndrome (STK11) Sequencing, Familial Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping Platelet antigen Genotyping Panel 15

18 MOLECULAR GENETICS WITH GENETIC SEQUENCING AND FRAGMENT ANALYSIS continued Platelet Antigen Genotyping (HPA-1) Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing and Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing Angelman Syndrome and Prader-Willi Syndrome by Methylation Primary Congenital Glaucoma (CYP1B1) Sequencing Prothrombin (F2) G20210A PTEN-Related Disorders (PTEN) Sequencing PTEN-Related Disorders (PTEN) Sequencing and *PTEN-Related Disorders (PTEN) Sequencing, Familial Pulmonary Arterial Hypertension (BMPR2) Sequencing Pulmonary Arterial Hypertension (BMPR2) Sequencing and *Pulmonary Arterial Hypertension (BMPR2) Sequencing, RASA1-Related Disorders (RASA1) Sequencing RASA1-Related Disorders (RASA1) Sequencing and *RASA1-Related Disorders (RASA1) Sequencing, Familial Rett Syndrome (MECP2) Sequencing Rett Syndrome (MECP2) Sequencing and Deletion/ *Rett Syndrome (MECP2) Sequencing, Familial RhCc Antigen (RHCE) Genotyping RhD Antigen (RhD) Genotyping Non-Invasive Prenatal Testing for RhD Genotyping, Fetal Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal TACI-Associated Common Variable Immunodeficiency (TNFRSF13B) Sequencing *TACI-Associated Common Variable Immunodeficiency (TNFRSF13B) Sequencing, *Tay-Sachs Disease (HEXA), 7 Variants *Tay-Sachs (HEXA) 7 s Telangiectasia Syndrome (BMP9/GDF2) Sequencing *Thanatophoric Dysplasia, Types I and II (FGFR3) 13 s Thrombotic Risk, DNA Panel Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V Leiden Thrombotic Risk Reflexive Panel Twin Zygosity Testing Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and *Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing, von Hippel-Lindau (VHL) Sequencing von Hippel-Lindau (VHL) Sequencing and Deletion/ *von Hippel-Lindau (VHL) Sequencing, von Willebrand Disease, Platelet Type (GP1BA) 4 s *von Willebrand Disease, Type 2A, 2B, 2M, or 2N (VWF) Sequencing, RhEe Antigen (RHCE) Genotyping SCN1A-Related Seizure Disorders (SCN1A), Sequencing and SDHB with Interpretation by Immunohistochemistry Shwachman-Diamond Syndrome (SBDS) Sequencing Smith-Lemli-Opitz Syndrome (DHCR7) Sequencing Smith-Lemli-Opitz Syndrome (DHCR7) Sequencing, Fetal Spinal Muscular Atrophy (SMA) Copy Number Analysis von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons von Willebrand Disease, Type 2B (VWF) Sequencing von Willebrand Disease, Type 2M (VWF) Sequencing von Willebrand Disease, Type 2N (VWF) Sequencing Wilson Disease (ATP7B) Sequencing X-Chromosome Inactivation Analysis Y-Chromosome Microdeletion 16 For more on Genetics, including white papers and additional technical information, please visit

19 PHARMACOGENETICS MARKERS Fluorouracil (5-FU) Toxicity and Chemotherapeutic Response, 5 s HLA-B*15:02 Genotyping, Carbamazepine Hypersensitivity CEBPA Detection Cytochrome P450 2C9, CYP2C9-2 Variants Cytochrome P450 2C19, CYP2C19-9 Variants Warfarin Sensitivity, CYP2C9 and VKORC1, 3 Variants Cytochrome P450 3A5 Genotyping, CYP3A5, 2 Variants Cytochrome P450 Genotype Panel Cytochrome P450 2D6 (CYP2D6) 15 Variants and Gene Dihydropyrimidine Dehydrogenase (DPYD), 3 Variants EGFR Detection by Pyrosequencing Gastrointestinal Stromal Tumor (C-KIT) imatinib HLA-B*5701 Genotyping for Abacavir Sensitivity Interleukin 28B-Associated Variants, IL28B, 2 SNPs KRAS Detection KRAS Detection with BRAF Reflex Methylenetetrahydrofolate Reductase (MTHFR) 2 s Opioid Receptor, mu OPRM1 Genotype, 1 Variant PML-RARA Translocation, t(15;17) by RT-PCR, Quantitative SLCO1B1, 1 Variant Thiopurine Methyltransferase (TPMT) Genotyping, 4 Variants ERBB2 (HER2/neu) Gene Amplification by FISH with Reflex, Tissue UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping irinotecan HEMATOLOGIC DISORDERS Alpha Thalassemia (HBA1 and HBA2) 7 Deletions Alpha Thalassemia HBA1 and HBA2 Sequencing Alpha Globin (HBA1 and HBA2) Beta Globin Gene s for HbS, HbC, and HbE by PCR Beta Globin (HBB) Sequencing Beta Globin (HBB) Sequencing and Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing Glucose-6-Phosphate Dehydrogenase (enzyme) Glucose-6-Phosphate Dehydrogenase (G6PD) 2 s Heinz Body Stain Hemoglobin Evaluation Reflexive Cascade Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility Hemoglobin F Hemoglobin (Hb) A2 and F by Column Hemoglobin Lepore (HBD-HBB Fusion) 3 s Hemoglobin S, Evaluation with Reflex to RBC Solubility Hemoglobin S, Sickle Solubility Hemoglobin, Unstable Oxygen Dissociation (P50) by Hemoximetry Pyruvate Kinase von Hippel-Lindau (VHL) Sequencing + Multiple tests available * Fetal testing available Testing is not offered for patients under the age of 18 For standalone deletion/duplication testing please contact the ARUP genetic counselors for more information Please see the ARUP Molecular Oncology Services brochure for a complete listing of molecular tests related to oncology. Refer to the Laboratory Test Directory on the ARUP website, for more detailed test information. 17

20 ARUP LABORATORIES 500 Chipeta Way Salt Lake City, UT Phone: (800) Fax: (801) ARUP is a nonprofit enterprise of the University of Utah and its Department of Pathology ARUP Laboratories BD-TS-003, Rev 25, March 2019