ARUP Genetics Patient History Forms
The forms listed below are provided for physician use to allow ARUP to perform testing and/or interpret patient results.
- Alport Syndrome Testing
- Angelman Syndrome
- Aortopathy Testing
- ATP7A Testing
- Autism and Intellectual Disability
- Biochemical Genetic Testing
- Biotinidase Deficiency
- BMP9-Related Telangiectasia Syndrome
- CADASIL (NOTCH3 GENE) Testing
- CAH (21-Hydroxylase Deficiency) Common Mutations
- Capillary Malformation
- Cardiomyopathy /Arrhythmia
- Charcot-Marie-Tooth and HN Testing
- CHARGE Syndrome (CHD7)
- Citrin Deficiency
- Citrullinemia Type 1 (ASS 1) Sequencing
- Cobalamin Propionate Homocysteine
- Connexin (Hearing Loss)
- Cystic Fibrosis (CF)
- Cystic Fibrosis, Fragile X Syndrome and Spinal Muscular Atrophy Carrier Screening
- Cytogenetic (Chromosome) Testing, Pediatric/Adult
- Cytogenetic (Chromosome) Testing, Prenatal
- Cytogenetic (Chromosome) Testing, Microarray
- Duchenne/Becker Muscular Dystrophy (DMD)
- Ehlers-Danlos Syndrome Kyphoscoliotic (Type VI)
- Exome Reanalysis
- Exome Sequencing
- Exome Sequencing Control, Family Member
- Familial Adenomatous Polyposis and MUTYH testing
- Familial Mediterranean Fever
- Familial Transthyretin (TTR) Amyloidosis
- Family Specific Mutation Testing
- Fetal Molecular Testing
- G6PD Deficiency
- Galactosemia
- Genomic Microarray Testing
- GLI3-Related Disorders (GLI3)
- Granulomatous Disease (CGD) Testing
- Hearing Loss
- Hemoglobinopathy/Thalassemia
- Hemophilia A or B Gene
- Hereditary Breast and Ovarian Cancer (HBOC) Syndrome Testing
- Hereditary Cancer Panel
- Hereditary Gastrointestinal Cancer Testing
- Hereditary Hemolytic Anemia
- Hereditary Hemorrhagic Telangiesctasia (HHT)
- Hereditary Paraganglioma-Pheochromocytoma
- Hereditary Renal Cancer Panel
- Holoprosencephaly Nonsyndromic
- Inherited Insulin Receptor Conditions
- Juvenile Polyposis Syndrome (JPS)/Hereditary Hemorrhagic Telangiectasia (HHT)
- Kabuki Syndrome
- Laminopathies (LMNA) Gene
- Li-Fraumeni Syndrome
- Loeys-Dietz
- Lynch Syndrome/HNPCC
- Marfan Syndrome (FBN1) Gene
- Maternal Serum (Prenatal Screening for Down Syndrome) Testing -Updated July 2018
- Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
- Mitochondrial Disorder Testing
- Molecular Genetic Testing
- Mucopolysaccharidosis (MPS)
- Multiple Endocrine Neoplasia 1 (MEN1) Gene
- Multiple Endocrine Neoplasia 2, RET Gene
- Neurofibromatosis Type 1 (NF1) /Legius Syndrome
- Non-Invasive Prenatal Testing (NIPT)
- Noonan or Leopard Syndrome
- Ornithine Transcarbamylase Deficiency (OTC)
- Pancreatitis
- Periodic Fever Syndromes
- Peutz-Jeghers Syndrome Testing
- Polycystic Kidney Disease, Autosomal Dominant
- Prenatal Cytogenetics Testing
- Prenatal or Expanded Carrier Screening
- Primary Antibody Deficiency
- Primary Carnitine Deficiency (SLC22A5)
- PTEN Hamartoma Tumor Syndrome (PHTS)
- Pulmonary Arterial Hypertension (PAH)
- Rapid Mendelian Genes Sequencing Panel, Trio
- RASA-1-Related Disorders
- Retinitis Pigmentosa
- Rett Syndrome (MECP2) or CDKL5-Related Disorders
- Skeletal Dysplasia Testing
- SHOX‐Related Disorders Testing
- Smith-Lemli-Opitz Syndrome Testing
- Spinal Muscular Atrophy (SMA)
- TACI-Associated Common Variable Immunodeficiency (TNFRSF13B) Testing
- Tay-Sachs Disease Testing
- Vascular Malformation Syndrome Testing
- Very Long Chain ACYL-CoA Dehydrogenase (VLCAD) Deficiency
- Von Hippel-Lindau Syndrome/Congenital Polycythemia (VHL)
- von Willebrand Disease (VWD)
- Wilson (ATP7B) Disease
- X‐Linked Adrenoleukodystrophy (ABCD1) Testing
