Pharmacogenetics

ARUP offers an extensive pharmacogenetic test menu to help the clinician in identifying appropriate treatment and to monitor efficacy and toxicity by evaluating the genetic differences in metabolic pathways for each individual.
Test # Test Name Test Keywords Additional Information
2007228 5-Fluorouracil (5-FU) Toxicity and Chemotherapeutic Response, 5 Mutations 5-FU, 5-Fluorouracil Toxicity and Chemotherapeutic Response Panel, Pharmacogenetics (PGx), Colorectal Cancer
2011431 ALK (D5F3) by Immunohistochemistry with Reflex to ALK Gene Rearrangements by FISH
2006102 ALK Gene Rearrangements in NSCLC for Crizotinib Eligibility by FISH ALK GENE, Lung cancer, pharmcogenetics, pulmonary cancer
0021020 Alkaline Phosphatase Isoenzymes, Serum or Plasma Bone Cancer, Gastrointestinal Cancer, Tumor Markers, Paget’s disease of bone
0020005 Alkaline Phosphatase, Serum or Plasma Bone Cancer, Paget’s disease of bone
2008420 BCR-ABL1 Mutation Analysis by Next Generation Sequencing Chronic Myelogenous Leukemia (CML), Acute Lymphoblastic Leukemia (ALL), Tumor Markers, NGS Additional Technical Information
0070053 Bone Specific Alkaline Phosphatase, Serum Bone Cancer
2002498 BRAF codon 600 Mutation Detection by Pyrosequencing Melanoma, Colorectal cancer, Lynch Syndrome, HNPCC, Hereditary Nonpolyposis Colorectal Cancer, Gastrointestinal Adenocarcinoma, Papillary thyroid carcinoma
2013921 BRAF V600E Mutation Detection in Circulating Cell-Free DNA by Digital Droplet PCR
2007132 BRAF V600E Mutation Detection in Hairy Cell Leukemia by Real-Time PCR, Quantitative Additional Technical Information
2011954 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing BRCA FGS, BRACA, HBOC
2011949 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication BRCA FGA, BRACA, HBOC
2011114 CBFB-MYH11 inv(16) Detection, Quantitative Acute Myeloid Leukemia (AML), Tumor Markers Additional Technical Information
2004247 CEBPA Mutation Detection Acute Myelogenous Leukemia (AML) Additional Technical Information
2002298 Chromosome FISH, Interphase Oncology, Bone Marrow, Ewing Sarcoma, Neuroblastoma, Myelodysplastic, MDS, Chronic Lymphocytic Leukemia (CLL), Sarcoma, Acute Lymphoblastic Leukemia (ALL), Chronic Myelogenous Leukemia (CML), Tumor Markers, Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN), Plasma Cell Dyscrasias, Lymphoma Phenotyping, B-Cell Lymphomas Please specify which FISH probe you wish to order.
2012769 Cytochrome P450 2C19, CYP2C19 - 9 Variants CYP2C19, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers
2012769 Cytochrome P450 2C19, CYP2C19 - 9 Variants Nine mutations are detected. Result will indicate metabolizer category (poor, intermediate, normal, ultra-rapid). Affects inactivation of methadone, diazepam, and activation of carisoprodol, meperidine. CYP
2012766 Cytochrome P450 2C9, CYP2C9 - 2 Variants CYP2C9, Warfarin Sensitivity, Pharmacogenetics (PGx) Additional Technical Information
2012766 Cytochrome P450 2C9, CYP2C9 - 2 Variants Two mutations are detected. Result will indicate metabolizer category (poor, intermediate, normal, ultra-rapid). Affects inactivation of amitriptyline, naproxen, ibuprofen. CYP, pharmacogenetics
0051232 Cytochrome P450 2D6 (CYP2D6) 14 Mutations and Gene Duplication CYP 2D6, Tamoxifen, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers
0051232 Cytochrome P450 2D6 (CYP2D6) 14 Mutations Gene duplication and 14 mutations are detected. Result will indicate metabolizer category (poor, intermediate, normal, rapid). Affects activation of codeine, hydrocodone, oxycodone, tramadol. opiates, opioid, pharmacogenetics, CYP
2013098 Cytochrome P450 Genotype Panel CYP PAN
2008920 Cytochrome P450 Pain Management Panel Common variants in the genes CYP2D6, 2C9, and 2C19 are tested. Report is tailored to common analgesics. acetaminophen, analgesic, ibuprofen, naproxen, opiates, opioid, pharmacogenetics
2012166 Dihydropyrimidine Dehydrogenase (DPYD) Genotyping, 3 Mutations DYPD 5-Fluorouracil toxicity 5-FU toxicity 5-FU toxicity 5FU toxicity Adrucil (DPYD) Genotyping, 3 Mutations Xeloda (capecitabine) (DPYD) Genotyping, 3 Mutations DPD Uftoral (tegafur/uracil) (DPYD) Genotyping, 3 Mutations
2002440 EGFR Mutation Detection by Pyrosequencing Lung Cancer Additional Technical Information
2002378 Eosinophilia Panel by FISH FISH EOS P, Mast Cell Disease, Eosinophilic Diseases, Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN), PDGFRA-CHIC2-FIP1L1, PDGFRB, FGFR1, CBFB
2008603 ERBB2 (HER-2/neu) Gene Amplification by FISH, Tissue HER2FISH, Breast Cancer, Tumor Markers, FISH, herceptin, HER2, HER-2, neu, HER2/neu, pathvision, pathvysion
2002674 Gastrointestinal Stromal Tumor Mutation Gastrointestinal Stromal Tumors (GIST) Additional Technical Information
0080135 Glucose-6-Phosphate Dehydrogenase G6PD, Dapsone, Flutamide, Mafenide cream, Methylene blue, Nalidixic acid, Nitrofurantoin, Phenazopyridine, Primaquine, Rasburicase, Sulfacetamide, Sulfamethoxazole, Sulfanilamide Additional Technical Information
2002429 HLA-B*5701 Associated Variant Genotyping for Abacavir Sensitivity HLA-B5701, Pharmacogenetics (PGx), HIV Drug Resistance, HIV, Abacavir sensitivity, Ziagene, Abacavir hypersensitivity, ABC HSR
2004680 Interleukin 28 B (IL28B)—Associated Variants, 2SNPs IL28B, Hepatitis C Virus (HCV), peginterferon, interferon, PEG-IFNα
2002357 JAK2 Exon 12 Mutation Analysis by PCR Myeloproliferative Neoplasms (MPN), Tumor Markers Additional Technical Information
0051245 JAK2 Gene, V617F Mutation, Qualitative Myeloproliferative Neoplasms (MPN), Tumor Markers Additional Technical Information
2012084 JAK2 Gene, V617F Mutation, Qualitative with Reflex to CALR (Calreticulin) Exon 9 Mutation Analysis by PCR with Reflex to MPL codon 515 Mutation Detection by Pyrosequencing, Quantitative
2012085 JAK2 Gene, V617F Mutation, Qualitative with Reflex to JAK2 Exon 12 Mutation Analysis by PCR
0040168 JAK2 Gene, V617F Mutation, Quantitation Myeloproliferative Neoplasms (MPN), Tumor Markers Additional Technical Information
2002695 KIT Mutations, Melanoma Melanoma, Tumor Markers, C-KIT, CKIT Additional Technical Information
0040248 KRAS Mutation Detection Pharmacogenetics (PGx), Lung Cancer, Colorectal Cancer, Tumor Markers, CRC, colon, rectal Additional Technical Information
2001932 KRAS Mutation Detection with BRAF reflex Pharmacogenetics (PGx), Lung Cancer, Colorectal Cancer, Tumor Markers, CRC, colon, rectal Additional Technical Information
2008894 Lung Cancer Panel Panel consist of EFGR, ALK, ROS1, if ROS1 equivocal reflex to ROS1 FISH
Additional Technical Information
2008895 Lung Cancer Panel with KRAS Panel consist of EFGR, KRAS, ALK, ROS1, if ROS1 equivocal reflex to ROS1 FISH
Additional Technical Information
0055655 Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C
2011117 Myeloid Malignancies Mutation Panel by Next Generation Sequencing Additional Technical Information
2003123 NRAS Mutation Detection by Pyrosequencing Colorectal, melanoma, Hereditary Nonpolyposis Colorectal Cancer , HNPCC, Tumor Markers, CRC, colon, rectal Additional Technical Information
2008767 Opioid Receptor, Mu (OPRM1) Genotype, 1 Variant One common variant is detected. Presence of the G allele leads to low sensitivity to opioid receptor agonists (e.g. morphine), and high sensitivity to opioid receptor antagonists (e.g. naltrexone, used in the treatment of alcohol and opioid dependency). opiates, opioid, pharmacogenetics, OPRM
2008767 Opioid Receptor, Mu (OPRM1) Genotype, 1 Variant OPRM1, opioid receptor, mu, mu receptor, naltrexone, opioid dependency, alcoholism Additional Technical Information
2002871 PML-RARA Translocation, t(15;17) by RT-PCR, Quantitative Acute Myelogenous Leukemia (AML), Acute Promyelocytic Leukemia (APL) Additional Technical Information
2002363 PML/RARα Translocation by FISH FISH PML, Acute Myeloid Leukemia (AML), Acute Promyelocytic Leukemia (APL), Tumor Markers
2010248 Prosigna Breast Cancer Prognostic Gene Signature pam50, pam 50, PAM50, PAM 50, PAM-50
2007031 PTEN with Interpretation by Immunohistochemistry
2008414 ROS1 with Interpretation by Immunohistochemistry with Reflex to FISH if Equivocal Additional Technical Information
2007991 Solid Tumor Mutation Panel by Next Generation Sequencing Additional Technical Information
2012233 Thiopurine Methyltransferase (TPMT) Genotyping, 4 Variants TPMT DNA 6-mercaptopurine 6-MP 6MP toxicity 6-thioguanine 6-TG 6TG AZA toxicity Azathioprine S-adenosyl-L-methionine genotype Thioguanine Thiopurine S-Methyltransferase genotype Thiopurine TPMT mutation TPMT gene TPMT genetics Additional Technical Information
0092066 Thiopurine Methyltransferase, RBC TPMT RBC, Thiopurine Methyltransferase Activity (TPMT), Pharmacogenetics (PGx), Immunosuppressive Drugs, Rheumatoid Arthritis (RA), Inflammatory Bowel Disease (IBD) Additional Technical Information
0051332 UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping Four variants in TA repeat numbers are detected. Affects inactivation of buprenorphine, ibuprofen, and morphine. glucuronidation, phase II, UGT1A1
0051332 UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping UGT1A1, Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer
2012772 Warfarin Sensitivity, CYP2C9 & VKORC1, 3 Variants WARF GENO, Warfarin metabolism, Coumadin, Pharmacogenetics (PGx), cytochrome P450 2C9, CYP2C9*2, CYP2C9*3, c.-1639G>A Additional Technical Information