Phosphorus. Diagnostics

Transcription

1 Phosphorus Diagnostics 7

2

3 Genomics, illuminated. We focus on your peace of mind. Our expert-guided assay designs, powerful data analytics, and rigorous variant interpretation ensure accurate results for your patients. Each test is flexible, because each case is unique. Our comprehensive and customizable panels are designed to handle the complexity of each patient s clinical history. Simple, well-vetted patient reports are our forte. We create reports you and your patients can understand, giving you the depth and simplicity you need to confidently use and communicate results. Consider us another set of hands. Our knowledgeable support team is here to help: from genetic counseling, to lab support, to facilitating family member testing, we want your workflow to be seamless. We take care of billing so you don t have to. Transparent prices and billing policies are our priority, so you can spend time with your patients not insurance companies. We re driven by a broader mission. We re scientists at the core, and we want to work with you to conduct novel research into the genetics of multifactorial disease.

4 Cardiology Phosphorus Diagnostics offers three customizable expert curated cardiology tests: Cardiomyopathies and Arrhythmias, Aortopathies and Connective Tissue Disorders, and Pulmonary Hypertension. Additional genes may be ordered up to 90 days after testing at no cost to the patient if an expanded disease panel is deemed clinically necessary. Cardiomyopathies & Arrhythmias Genes: 133 A genetic test for inherited cardiomyopathies and arrhythmias that can lead to sudden cardiac death. Cardiomyopathy Arrythmia Arrhythmogenic Cardiomyopathy Dilated Cardiomyopathy Hypertrophic Cardiomyopathy Left Ventricular Non-Compaction Cardiomyopathy Restrictive Cardiomyopathy Brugada Syndrome Catecholaminergic Polymorphic Ventricular Tachycardia Long QT Syndomre Short QT Syndrome Aortopathies and Connective Tissue Disorders Genes: 34 A genetic test for inherited disorders that cause aortic aneurysms and dissections that can lead to sudden death. Ehlers-Danlos Syndrome Loeys-Dietz Syndrome Marfan Syndrome Pulmonary Hypertension Genes: 11 A genetic test for pulmonary hypertension and other vascular disorders that can lead to hemorrhage or heart failure. Pulmonary Arterial Hypertension Hereditary Hemorrhagic Telangiectasia

5 Lipidology Phosphorus Diagnostics offers a genetic test for Pan Dyslipidemia and a test for Familial Hypercholesterolemia. Additional genes may be ordered up to 90 days after testing at no cost to the patient if an expanded disease panel is deemed clinically necessary. Dyslipidemias Genes: 22 A genetic test for dyslipidemias that can lead to abnormally elevated cholesterol or fats. Pan Dyslipidemia Familial Hypercholesterolemia Reproductive Health Phosphorus Diagnostics offers infertility tests covering several disease areas for both women and men. Additional genes may be ordered up to 90 days after testing at no cost to the patient, if an expanded disease panel is deemed clinically necessary. Infertility Genes: 87 A genetic test that examines multiple genetic factors that may impact a patient s fertility or response to fertility treatment. Female Infertility (74 genes) Male Infertility (18 genes)

6 Oncology Phosphorus Diagnostics offers two multiple cancer panels and a variety of disease-specific cancer panels. Additional genes may be ordered up to 90 days after testing at no cost to the patient if an expanded disease panel is deemed clinically necessary. Hereditary Cancers Genes: 114 A genetic test that examines the most actionable and widely-recognized genes across cancer types to determine whether a patient is predisposed to cancer. Comprehensive Targeted Common/High-Risk (32 genes) Pan Cancer (114 genes) Brain/Nervous Breast Colorectal Leukemia Melanoma Ovarian/Uterine Pancreatic Pediatric Prostate Renal Thyroid

7 Ophthalmology Phosphorus Diagnostics offers four customizable expert curated ophthalmology tests: Retinal Disorders, Cataracts, Glaucoma, and Corneal Dystrophy. Additional genes may be ordered up to 90 days after testing at no cost to the patient, if an expanded disease panel is deemed clinically necessary. Retinal Disorders Genes: 164 A genetic test for inherited retinal disorders that can lead to vision loss and blindness. Achromatopsia Bardet-Biedl Syndrome Cone-Rod Dystrophy Congenital Stationary Night Blindness Leber Congenital Amaurosis Macular Dystrophy Retinitis Pigmentosa Usher Syndrome Cataracts Genes: 44 A genetic test for congenital cataracts, which can lead to vision impairment and blindness. Congenital Cataracts Glaucoma Genes: 12 A genetic test for early-onset glaucoma. Early-Onset Glaucoma Corneal Dystrophy Genes: 8 A genetic test for inherited diseases of the cornea. Corneal Dystrophy

8 Drug Response Phosphorus Diagnostics offers comprehensive pharmacogenomic tests covering hundreds of the most commonly prescribed drugs across a large cross section of therapeutic areas. Pharmacogenomic testing can reduce adverse drug reactions, help optimize dosing, and assist selecting most effective medication. Drug Response A genetic test that examines multiple genes to predict response to various drugs. The test includes all below therapeutic areas. Cardiovascular Endocrinology Immunology Infectious Disease Oncology Pain Management Psychiatry Other Drugs Antiarrhythmic Anticoagulant Antiplatelets Antithyroid Sulfonylureas 5-Aminosalicyclic-Acid Derivative Antigout Agent Calceineuring Inhibitor Immunosuppressant MTOR Inhibitors Antibiotics Antifungals 5-HT3 Antagonists Antimetabolite Antineoplastic Agent Estrogen Modulator Folic Acid Analogs Platinum Analogs Anesthetic Muscle Relaxant Antipsychotics Benzodiazepines Norepinephrine-Dopamine Reuptake Inhibitor (NDRI) Gastroenterology Genetic Disease Gynecology Neurology Beta Blockers Diuretics Statins Thiazolidnediones TNF Inhibitor Urate Transporter Inhibitor Uricosuric Agent Xanthine Oxidase Inhibitor Antimalarials Antivirals Purine Analogs Pyrimidine Analogs Recombinant Urate Oxidase Enzyme Topoisomerase Inhibitors Tyrosine Kinase Inhibitors Other Nonsteroidal Anti-inflammatory Drugs (NSAIDS) Opioids Selective Serotonin Reuptake Inhibitors (SSRIs) Serotonin-Norepinephrine Reuptake Inhibitors Tricyclic Antidepressants Ophthalmology Toxicology Urology Other Indications

9 Neurology Phosphorus Diagnostics offers 4 customizable expert curated neurologic tests: Neurodegeneration, Neurodevelopment, Epilepsy, and Neuropathy. Additional genes may be ordered up to 90 days after testing at no cost to the patient, if an expanded disease panel is deemed clinically necessary. Neurodegeneration Genes: 42 A genetic test for neurodegenerative disorders including dementia, dystonia, Parkinson Disease, and others. Hereditary Dementia Parkinson Disease and Parkinsonism Dystonia Neurodegenerative Disorders Neurodevelopment Genes: 171 A genetic test for neurodevelopmental disorders, including autism and other intellectual disability. Autism and Intellectual Disability Autism Epilepsy Genes: 196 A genetic test for epilepsy. Epilepsy Neuropathy Genes: 81 A genetic test for hereditary neuropathies. Neuropathies

10 Why Genetic Why Testing? Genetic Testing? RISK ASSESSMENT Genetic testing uncovers genetic contribution to disease etiology, clarifying asymptomatic conditions as well. FAMILY TESTING Cascade testing facilitates identification of at-risk family members, so appropriate actions can be taken. TREATMENT PLANNING High-risk patients and family members may benefit from increased surveillance, targeted medications, and prophylactic surgery. Coming Soon: Clinical Exome Phosphorus Diagnostics continually develops diagnostic genetic tests for new specialty areas. In the upcoming year, watch for new disease area and panel offerings in the area of Clinical Exome.

11 Simple Testing Workflow 1 SAMPLE COLLECTION Blood and/or saliva collection kits are shipped directly from Phosphorus to providers offices. Patient forms are included in the kits, along with a prepaid FedEx Clinical Pak. 2 DNA ANALYSIS Patient DNA is extracted and processed using next-generation sequencing technology in our CLIA-certified lab. Data is analyzed using Phosphorus s proprietary bioinformatics software, Elements. 3 REPORTING All variant interpretations are vetted through a rigorous quality control process that includes internal validations by Ph.D. scientists. Patient reports are sent to providers via secure . 4 FOLLOW-UP Phosphorus is with you every step of the way and can provide referrals to board-certified genetic counselors through our third-party network. Genetic counselors are qualified to explain variants, genes, and conditions to patients DPB

12 Phosphorus Diagnostics 8 support@phosphorus.com