ARUP Genetics Technical Bulletins

Written by ARUP’s medical directors and added to this list on a quarterly basis, technical bulletins provide interpretive data regarding newly available tests, including methodologies and clinical significance.

All A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #
New Title Alphabet
New Citrin Deficiency (SLC25A13) Sequencing C
New Cytogenomic SNP Microarray (CMA SNP), Blood or Buccal Specimen C
New Cytogenomic SNP Microarray—Oncology C
New Exome Sequencing E
New Inherited Insulin Resistance Syndromes (INSR) Sequencing I
New Inosine Triphosphatase (ITPA) and Interleukin 28 B (IL28B)-Associated Variants, 4 SNPs I
New SCN1A-Related Seizure Disorders S
New X-Chromosome Inactivation Analysis X
  1p and 19q by FISH 1
  5-Fluorouracil Sensitivity (DPYD, TYMS, and MTHFR), 8 Mutations 1
  Achondroplasia (FGFR3) 2 Mutations A
  Acute Myeloid Leukemia (AML) Panel by FISH A
  Aggressive Lymphoma Panel by FISH A
  Alpha-1-Antitrypsin Deficiency, Genotyping A
  Alpha Thalassemia HBA1 and HBA2 Common Gene Deletions or Sequencing A
  Alport Syndrome, Adult Type (COL4A5) 3 Mutations A
  Alport Syndrome, X-Linked (COL4A5) Sequencing and Deletion/Duplication A
  AML with MDS or Therapy-Related MDS Panel by FISH A
  Angelman Syndrome Methylation or UBE3A Sequencing A
  Ankylosing Spondylitis (HLA-B27) Genotyping A
  Apolipoprotein B (APOB) 2 Mutations A
  Apolipoprotein E (APOE) 2 Mutations, Cardiovascular Risk A
  Ashkenazi Jewish Diseases A
  Beta-2-Adrenergic Receptor (ADRB2) Haplotyping B
  Beta Globin (HBB) HbS, HbC, and HbE Mutations B
  Beta Globin (HBB) Sequencing B
  Biotinidase Deficiency (BTD) B
  BRAF V600E Mutation and MLH1 Promoter Methylation Detection in Colon Cancer B
  CDKL5-Related Disorders C
  Celiac Disease (HLA-DQA and HLA-DQB) Genotyping C
  Cerebral Cavernous Malformation (CCM1, CCM2, and CCM3) C
  Chimerism by STR Genotyping C
  CHOP Gene Rearrangement by FISH C
  Chromosome Analysis—Breakage, Ataxia Telangiectasia, Whole Blood C
  Chromosome Breakage Analysis—Fanconi Anemia C
  Chronic Lymphocytic Leukemia C
  Creatine Deficiency Syndromes C
  Cystic Fibrosis Cis-Trans (CFTR)R117H & 5T Mutations C
  Cystic Fibrosis (CFTR) 3199del6 Mutation C
  Cystic Fibrosis (CFTR) 32 Mutations C
  Cystic Fibrosis (CFTR) 32 Mutations, Atypical C
  Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing and Deletion/Duplication C
  Cytochrome P450 2C9 (CYP2C9) 2 Mutations C
  Cytochrome P450 2C19 (CYP2C19) 9 Mutations C
  Cytochrome P450 2C19 (CYP2C19) 10 Mutations C
  Cytochrome P450 2D6 (CYP2D6)14 Mutations & Gene Duplication C
  Cytochrome P450 2D6 Genotyping to Predict Metabolic Activation of Tamoxifen C
  Cytogenomic SNP Microarray (CMASNP) C
  deCODE ProstateCancer™Genetic Risk Assessment D
  Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication E
  Eosinophilia Panel by FISH E
  Factor II (F2) G20210A Mutation F
  Factor V Leiden (F5) R506Q Mutation F
  Factor V R2 A4070G Mutation F
  Factor XIII (F13A1) V34L Variant F
  Familial Adenomatous Polyposis, APC Sequencing and Deletion/ Duplication, and MUTYH (MYH) 2 Mutations F
  Familial Mediterranean Fever (MEFV) Sequencing F
  FG Syndrome (MED12) R961W Mutation F
  FKHR by FISH on Formalin-Fixed, Paraffin-Embedded Tissue F
  Fragile X (FMR1) Mutation F
  Freeman-Sheldon Syndrome (MYH3) Sequencing, Exon 17 F
  Galactosemia Panel G
  Galactosemia Sequencing G
  Genomic SNP Microarray, Products of Conception (ARRAY POC) G
  Glaucoma (Primary Congenital), CYP1B1 Sequencing G
  Glucose-6-Phosphate Dehydrogenase (G6PD) DNA Mutation G
  Glutarylcarnitine Quantitation for Glutaric Acidemia Type I G
  Haptoglobin (HP) Genotyping H
  Hearing Loss Panel, Nonsyndromic (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial 2 Mutations H
  Hemochromatosis (HFE) 3 Mutations H
  Hemoglobin Evaluation Reflexive Cascade H
  Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations H
  Hemophilia A (F8) Inversion, Sequencing, and Deletion/ Duplication H
  Hemophilia B (F9) Sequencing H
  HER2 by FISH H
  Hereditary Persistence of Fetal Hemoglobin (HPFH) 8 Mutations H
  Hereditary Hemorrhagic Telangiectasia (ENG and ACVRL1) Sequencing and Deletion/Duplication H
  HLA-B*5701 Genotyping, Abacavir Sensitivity H
  HNPCC/ Lynch Syndrome, Microsatellite Instability by PCR H
  Huntington Disease (HD) H
  Hypochondroplasia (FGFR3) 2 Mutations H
  Idiopathic and Hereditary Pancreatitis I
  IgH/BCL2 Translocation by FISH I
  IgH-CCND1 by FISH on Formalin-Fixed, Paraffin-Embedded Tissue I
  IgH-MYC Fusion, t(8;14) Rearrangement by FISH I
  Interleukin 28 B (IL28B)-Associated Variants, 2 SNPs I
  Juvenile Polyposis: (SMAD4) Sequencing and Deletion/Duplication, (BMPR1A) Sequencing and Deletion/Duplication J
  Kell Antigen Genotyping (KEL1-KEL2) K
  Legius Syndrome (SPRED1) Sequencing & (NF1) Sequencing Exon 22 (Exon 17) L
  LMNA-Related Disorders (LMNA) Deletion/Duplication L
  LMNA-Related Disorders (LMNA) Sequencing L
  Loeys-Dietz Syndrome (TGFBR1 and TGFBR2) Sequencing and Deletion Duplication L
  Lynch Syndrome/Hereditary Nonpolyposis Colorectal Cancer (MLH1, MSH2, MSH6, and PMS2) Sequencing and Deletion/ Duplication L
  Macular Degeneration, Age-Related M
  Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication M
  Maternal Screening, Sequential M
  Maternal Serum Screen, First Trimester M
  Maternal Serum Screening, Integrated Test M
  Maternal Serum Screening, Quadruple M
  MDM2 FISH M
  Medium Chain Acyl-CoA Dehydrogenase (MCAD) M
  Methylenetetrahydrofolate Reductase (MTHFR) Mutation Detection M
  Microarray, Genomic, Fetal M
  Mitochondrial Disorders Panel (mtDNA and 108 Nuclear Genes) Sequencing and Deletion/Duplication M
  Mitochondrial Genome Mutation Scanning M
  Mucopolysaccharides, Screen and Quantitation M
  Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication M
  Multiple Endocrine Neoplasia Type 2 (MEN 2) M
  Multiple Myeloma (MM) by FISH M
  Myelodysplastic Syndrome (MDS) Panel by FISH M
  Myeloproliferative Disorder (MPD) Panel by FISH M
  Narcolepsy (HLA-DQB1) N
  Noonan Syndrome, PTPN11 Sequencing with Reflex to SOS1 Sequencing N
  Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication O
  Orotic Acid and Orotidine O
  Plasminogen Activator Inhibitor-1, PAI-1(SERPINE1) Genotype P
  Platelet Antigen (HPA1, HPA2, HPA3, HPA4, HPA5, HPA6, and HPA15) Genotyping P
  Polycythemia, Congenital (VHL) Sequencing P
  Prader-Willi Syndrome by Methylation P
  Primary Carnitine Deficiency (SLC22A5) Sequencing and Deletion/Duplication P
  Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication P
  PTEN-Related Disorders, Sequencing and Deletion/Duplication P
  RASA1 Sequencing R
  Recurrent Genetic Abnormalities in Adult B-Cell Acute Lymphoblastic Leukemia/Lymphoma R
  Recurrent Genetic Abnormalities in Pediatric B-Cell Acute Lymphoblastic Leukemia/Lymphoma R
  Rett Syndrome (MECP2) Sequencing and Deletion/ Duplication R
  RhD Antigen (RHD) Genotyping R
  RhEe and RhCc Antigen (RHCE) Genotyping R
  Thanatophoric Dysplasia, Types 1 & 2 (FGFR3) 13 Mutations T
  UGT1A1 (TA)n Polymorphisms U
  UroVysion(TM) FISH U
  Very Long-Chain Acyl-CoA Dehydrogenase/VLCAD (ACADVL) Sequencing and Deletion/Duplication V
  Very Long-Chain and Branched-Chain Fatty Acids Profile V
  von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication V
  von Willebrand Disease, Type 2 (VWF) Sequencing, Selected Exons or Platelet-Type von Willebrand Disease (GP1BA), 4 Mutations V
  Warfarin Sensitivity (CYP2C9 & VKORC1) 3 Mutations W
  WT1 Mutation Detection by Sequencing W
  X-Chromosome Ultra High-Density Microarray, 954 Genes X
  Y Chromosome Microdeletions Y