The lab tests listed below require that a completed patient history and/or informed consent form be submitted to ARUP to perform and/or interpret patient results. For the ordered test, please print and fill out the required form(s), then submit with the test request form or electronic packing list.
Test numbers link to the test entry in the Laboratory Test Directory.
| General Consent Forms for Physicians' Use | |||
|---|---|---|---|
| ARUP Test Name | Required Form | ||
| English | Español | ||
| Cytogenetic Testing | |
||
| Biochemical Genetic Testing | |||
| Molecular Genetic Testing | |||
| Required Patient Consent/History Forms | ||
|---|---|---|
| Test # | ARUP Test Name | Required Form |
| 2002387 | Acetylcholinesterase and Fetal Hemoglobin | |
| 0051265 | Achondroplasia, Fetal | |
| 0051266 | Achondroplasia, Mutation | |
| 0040033 | Acylcarnitine Quantitative Profile, Plasma | |
| 0080427 | Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase | |
| 0080137 | Amino Acids Quantitative, CSF | |
| 0080710 | Amino Acids Quantitative, Plasma | |
| 0080044 | Amino Acids Quantitative, Urine | |
| 0051495 | Alpha Thalassemia, HBA1 & HBA2, Gene Deletions | Thalassemia Testing |
| 2001582 | Alpha Thalassemia: HBA1 and HBA2, Sequencing | Thalassemia Testing |
| 0051710 | Alport Syndrome, X-linked (COL4A5) 3 Mutations | |
| 2002394 | Alport Syndrome, X-linked (COL4A5) Deletion/Duplication | |
| 0051786 | Alport Syndrome, X-linked (COL4A5) Sequencing | |
| 2002398 | Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication | |
| 0051415 | Ashkenazi Jewish Panel | |
| 0050578 | Beta Globin (HBB) Full-Gene Sequencing | Thalassemia Testing |
| 0051421 | Beta Globin Gene Mutations for HbS, HbC, & HbE by PCR | Thalassemia Testing |
| 0051422 | Beta Globin S,C,E, Fetal | |
| 0050388 | Beta Globin Sequencing, Fetal | |
| 0051700 | Biotinidase Deficiency (BTD) 5 Mutations | |
| 0051730 | Biotinidase Deficiency (BTD) Sequencing | |
| 0051433 | Bloom Syndrome, BLM Gene 2281del6/ins, 7 Mutation | |
| 0051434 | Bloom Syndrome, Fetal | |
| 0051453 | Canavan Disease, ASPA Gene Mutations | |
| 0051454 | Canavan Disease, Fetal | |
| 0051682 | Carnitine Deficiency, Primary (SLC22A5) Sequencing | |
| 0080068 | Carnitine, Free & Total (Includes Carnitine, Esterified) | |
| 0081110 | Carnitine Panel | |
| 0080512 | Carnitine Transport, Fibroblasts | |
| 2003164 | Cerebral Cavernous Malformation (CCM1) Sequencing with Reflex to (CCM1, CCM2, and CCM3) Deletion/Duplication with Reflex to (CCM2) Sequencing and Reflex to (CCM3)Sequencing | |
| 2003172 | Cerebral Cavernous Malformation (CCM1, CCM2 and CCM3) Deletion/Duplication | |
| 2003152 | Cerebral Cavernous Malformation (CCM1) Sequencing | |
| 2003156 | Cerebral Cavernous Malformation (CCM2) Sequencing | |
| 2003160 | Cerebral Cavernous Malformation (CCM3) Sequencing | |
| 2002293 | Chromosome Analysis, Amniotic Fluid | |
| 2002292 | Chromosome Analysis, Bone Marrow | |
| 0097688 | Chromosome Analysis, Breakage Syndrome Analysis | |
| 2002291 | Chromosome Analysis, Chorionic Villus | |
| 2002298 | Chromosome Analysis, FISH-Interphase | |
| 2002299 | Chromosome Analysis, FISH-Metaphase | |
| 2002290 | Chromosome Analysis, Leukemic Blood | |
| 2002300 | Chromosome Analysis, Lymph Node | |
| 2002289 | Chromosome Analysis, Peripheral Blood | |
| 2002297 | Chromosome Analysis, Prenatal FISH | |
| 2002288 | Chromosome Analysis, Products of Conception | |
| 2002287 | Chromosome Analysis, Rule Out Mosaicism | |
| 0097677 | Chromosome Analysis, Sister Chromatid Exchange | |
| 2002286 | Chromosome Analysis, Skin Biopsy | |
| 2002296 | Chromosome Analysis, Solid Tumor | |
| 2002297 | Chromosome FISH, Prenatal | |
| 0040203 | Chorionic Villus, FISH | |
| 0051374 | Connexin 26 (GJB2), Sequencing | |
| 0051383 | Connexin 26 (GJB2), 35delG Mutation Detection | |
| 2001956 | Connexin 30 (GJB6) 2 Deletions | |
| 0050098 | Cystic Fibrosis, 3199del6 Only Contact ARUP genetic counselor prior to ordering at (800) 242-2787, ext. 2946. |
|
| 0056003 | Cystic Fibrosis (CFTR) 5T Mutation Contact ARUP genetic counselor prior to ordering at (800) 242-2787, ext. 2946. |
|
| 2001933 | Cystic Fibrosis (CFTR) 32 Mutations | |
| 2001970 | Cystic Fibrosis (CFTR) 32 Mutations, Fetal | |
| 2001968 | Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing | |
| 2001967 | Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing and Reflex to Deletion/Duplicaton | |
| 2001969 | Cystic Fibrosis, Atypical | |
| 0056006 | Cystic Fibrosis, Cis-Trans | |
| 0051642 | Cystic Fibrosis (CFTR) Deletion/Duplication | |
| 0051110 | Cystic Fibrosis (CFTR) Sequencing | |
| 0051640 | Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication < | 0081106 | Cystine Quantitative, Urine |
| 0081105 | Cystinuria Panel | |
| 0097720 | Factor V Leiden (F5) R506Q Mutation | |
| 0051463 | Dysautonomia, Familial (IKBKAP) 2 Mutations | |
| 0051464 | Dysautonomia, Familial (IKBKAP) 2 Mutations, Fetal | |
| 2002658 | Familial Mediterranean Fever (MEFV) Sequencing | |
| 0051468 | Fanconi Anemia Group C, FANCC Gene Mutations | |
| 0051469 | Fanconi Anemia Group C, FANCC Gene Mutations, Fetal | |
| 0082024 | Fetal Fibronectin | |
| 0051752 | FG Syndrome, FGS1 (MED12) R961W Mutation | |
| 0040011 | Fragile X Syndrome, DNA Testing | |
| 0050543 | Fragile X Syndrome, DNA Testing, Fetal | |
| 2002662 | Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17 | |
| 0080125 | Galactose-1-Phosphate Uridyltransferase | |
| 0051176 | Galactosemia (GALT) 9 Mutations | |
| 0051175 | Galactosemia (GALT) Enzyme Activity & 9 Mutations | |
| 0051346 | Galactosemia (GALT) Sequencing | |
| 0051270 | Galactosemia Mutation Panel, Fetal | |
| 0051438 | Gaucher Disease (GBA) 8 Mutations | |
| 0051439 | Gaucher Disease (GBA) 8 Mutations, Fetal | |
| 0040201 | Genomic Microarray Analysis for Constitutional Abnormalities | |
| 0040201 | Genomic Microarray, UARRAY Chip | |
| 0051476 | Glaucoma, Primary Congenital (CYP1B1) Sequencing | |
| 2002044 | Hearing Loss, Nonsyndromic, Mitochondrial DNA 2 Mutations | |
| 2001992 | Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions, and Mitochondrial DNA 2 Mutations | |
| 0055656 | Hemochromatosis Mutation Detection (C282Y, H63D, & S65C), Hereditary | |
| 0050610 | Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility | Thalassemia Testing |
| 2001614 | Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication |
|
| 2001578 | Hemophilia B (F9) Sequencing | |
| 0051348 | Hereditary Hemorrhagic Telangiectasia Deletion & Duplication (HHT) Contact ARUP genetic counselor prior to ordering at (800) 242-2787, ext. 3439. |
|
| 0051381 | Hereditary Hemorrhagic Telangiectasia Full Gene Sequencing (HHT) Contact ARUP genetic counselor prior to ordering at (800) 242-2787, ext. 3439. |
|
| 0051382 | Hereditary Hemorrhagic Telangiectasia Full Gene Analysis (HHT) Contact ARUP genetic counselor prior to ordering at (800) 242-2787, ext. 3439. |
|
| 0040018 | Huntington Disease (HD) Mutation with Reflex to Southern Blot | |
| 0093484 | Hypertrophic Cardiomyopathy Microarray, 11 Genes | |
| 0093482 | Hypertrophic Cardiomyopathy, Familial Mutation | |
| 2002701 | Loeys-Dietz Syndrome (TGFBR1 and TGFBR2) Sequencing and Deletion/Duplication | |
| 2002705 | Loeys-Dietz Syndrome (TGFBR1 and TGFBR2) Sequencing | |
| 2002697 | Loeys-Dietz Syndrome (TGFBR1 and TGFBR2) Deletion/Duplication | |
| 0051650 | Lynch Syndrome, HNPCC (MLH1) Sequencing & Deletion/Duplication | |
| 0051654 | Lynch Syndrome, HNPCC (MSH2) Sequencing & Deletion/Duplicationion | |
| 0051656 | Lynch Syndrome, HNPCC (MSH6) Sequencing & Deletion/Duplication | |
| 0051737 | Lynch Syndrome, HNPCC (PMS2) Sequencing & Deletion/Duplication | |
| 2001728 | Lynch Syndrome/HNPCC Deletion/Duplication | |
| 2001971 | Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication | |
| 0051510 | Juvenile Polyposis (SMAD4) Sequencing | |
| 2001976 | Juvenile Polyposis (SMAD4) Deletion/Duplication | |
| 0080434 | Maternal Serum Screen, Alpha Fetoprotein (Only) | |
| 0080108 | Maternal Serum Screening, Alpha Fetoprotein, hCG & Estriol | |
| 0080269 | Maternal Serum Screening, Alpha Fetoprotein, hCG, Estriol, & Inhibin | |
| 0081150 | Maternal Serum Screening, First Trimester | |
| 0081062 | Maternal Serum Screening, Integrated Specimen #1 | |
| 0081064 | Maternal Serum Screening, Integrated Specimen #2 | |
| 0081293 | Maternal Screening, Sequential, Specimen #1 | |
| 0081294 | Maternal Screening, Sequential, Specimen #2 | |
| 0051758 | Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing | |
| 0051205 | Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) 2 Mutations | |
| 0055655 | Methylenetetrahydrofolate Reductase Mutation Detection (Thermolabile form) (C677T & A1298C) | |
| 2002366 | Microarray Genomic, Fetal | |
| 0051448 | Mucolipidosis IV (MCOLN1) 2 Mutations | |
| 0051449 | Mucolipidosis IV (MCOLN1) 2 Mutations, Fetal | |
| 0081352 | Mucopolysaccharides Electrophoresis & Quantitation, Urine (MPS SCREEN) | |
| 0081357 | Mucopolysaccharides, Quantitative, Urine | |
| 0051390 | Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing | |
| 0051492 | Multiple Endocrine Neoplasia Type 2B (MEN2B), RET Gene M918T and A883F Mutations | |
| 2001952 | Neurofibromatosis Type 1 (NF1) Deletion/Duplication | |
| 0051459 | Niemann-Pick Disease Type A, Fetal | |
| 0051459 | Niemann-Pick Disease, SMPD1 Gene Mutations, Fetal | |
| 0051805 | Noonan Syndrome (PTPN11) Sequencing | |
| 0099289 | Organic Acids, Plasma | |
| 0098389 | Organic Acids, Urine | |
| 2002016 | Pancreatitis, Hereditary (PRSS1) Sequencing | |
| 2002005 | Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing | |
| 2002012 | Pancreatitis, Idiopathic (SPINK1) Sequencing | |
| 0051308 | Platelet Antigen Genotyping Panel | |
| 0056060 | Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II) | |
| 2002470 | PTEN–Related Disorders, Sequencing and Deletion/Duplication | |
| 2002722 | PTEN–Related Disorders, Sequencing | |
| 2002726 | PTEN–Related Disorders, Deletion/Duplication | |
| 2002730 | RASA1-Related Disorders (RASA1) Sequencing | |
| 0051614 | Rett Syndrome (MECP2), Full Gene Analysis | |
| 0051378 | Rett Syndrome (MECP2), Full Gene Sequencing | |
| 0051618 | Rett Syndrome (MECP2), Deletion and Duplication | |
| 0050421 | RhCc Antigen (RHCE) Genotyping | |
| 0051368 | Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) | |
| 0050423 | RhEe Antigen (RHCE) Genotyping | |
| 0051428 | Tay-Sachs (HEXA) 7 Mutations | |
| 0051429 | Tay-Sachs (HEXA) 7 Mutations, Fetal | |
| 0051508 | Thanatophoric Dysplasia Type I/II Panel, Fetal | |
| 2002001 | VLCAD Deficiency (ACADVL) Sequencing | |
| 2002965 | Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication | |
| 2002970 | Von Hippel-Lindau (VHL) Sequencing | |
| 2002988 | Von Hippel-Lindau (VHL) Deletion/Duplication |