ACYLCARNITINES, QUANTITATIVE, PLASMA
|
|
|
- Dayna Alaina Jefferson
- 5 years ago
- Views:
Transcription
1 Lab Dept: Test Name: Chemistry ACYLCARNITINES, QUANTITATIVE, PLASMA General Information Lab Order Codes: ACYP Synonyms: CPT Codes: Test Includes: Glycine conjugates plasma Acylcarnitines, quantitative, each specimen Acetylcarnitine (C:2); Propionylcarnitine (C3); Iso-/Butyrylcarnitine (C4); Isovaleryl-/2-Methylbutyrylcarnitine (C5); Hexanoylcarnitine (C6); 3-OH- Hexanyoylcarnitine (C6-OH); Octenoylcarnitine (C8:1), Octanoylcarnitine (C8); Decenoylcarnitine (C10:1); Decanoylcarnitine (C10); Glutarylcarnitine (C5-DC); Dodecenoylcarnitine (C12:1); Dodecanoylcarnitine (C12); 3-OH- Dodecanoylcarnitine (C12-OH); Tetradecadienoylcartinine (C14:2); Tetradecenoylcarnitine (C14:1); Tetradecanoylcarnitine (C14); 3-OH- Tetradecenoylcarnitine (C14:1-OH); 3-OH-Tetradecanoylcarnitine (C14- OH); Hexadecenoylcarnitine (C16:1);Hexadecanoylcarnitine (C16); 3-OH- Hexadecenoylcarnitine(C16:1-OH); 3-OH-Hexadecanoylcarnitine (C16-OH); Linoleylcarnitine (C18:2); Oleylcarnitine (C18:1); Stearoylcarnitine (C18); 3- OH-Linoleylcarnitine (C18:2-OH); 3-OH-Oleylcarnitine (C18:1-OH) levels all reported in nmol/ml. Logistics Test Indications: Lab Testing Sections: Referred to: Diagnosis of fatty acid beta-oxidation disorders and several organic acidurias. In general, more than 20 inborn errors of metabolism can be identified using this method. For most of the disorders involving fatty acid beta-oxidation, this is the most informative screening test. Quantitative acylcarnitine analysis can also be used to evaluate the treatment during follow-up of patients with these disorders. Chemistry - Sendouts Mayo Medical Laboratories (MML Test: ACRN) Phone Numbers: MIN Lab: STP Lab: Test Availability: Turnaround Time: Daily, 24 hours 2 5 days, test performed Monday - Friday
2 Special Instructions: Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information. Patient s age is required on the request form for processing. See Patient Preparation. Specimen Specimen Type: Container: Draw Volume: Processed Volume: Collection: Special Processing: Patient Preparation: Sample Rejection: Blood Green top (Lithium Heparin) tube Alternate tubes: Lavender (EDTA), Green (Sodium Heparin) 0.5 ml (Minimum: 0.2 ml) blood 0.1 ml (Minimum: 0.05 ml) plasma Routine venipuncture Lab Staff: Centrifuge specimen, remove plasma aliquot into a screw-capped round bottom plastic vial. Ship and store at frozen temperatures. Draw specimen just prior to next scheduled meal or feeding. Mislabeled or unlabeled specimens Interpretive Reference Range: Age: Range (nmol/ml): Acetylcarnitne, C:2: 1 7 days: days 7 years: years: Acrylylcarnitine C3:1 1 7 days: < days 7 years: < years: <0.07 Propionylcarnitine, C3: 1 7 days: <0.55
3 8 days 7 years: < years: <0.88 Formiminoglutamate, FIGLU 1 7 days: < days 7 years: < years: <0.14 Iso-/Butyrylcarnitine, C4: 1 7 days: < days 7 years: < years: <0.83 Tiglylcarnitine, C5:1 1 7 days: < days 7 years: < years: <0.11 Isovaleryl-/2-Methylbutyrulcarnitine, C5: 1 7 days: < days 7 years: < years: < OH-iso-/butyrylcarnitine, C4-OH 1 7 days: < days 7 years: < years: <0.18 Hexenoylcarnitine, C6:1
4 1 7 days: < days 7 years: < years: <0.15 Hexanoylcarnitine, C6: 1 7 days: < days 7 years: < years: < OH-isovalerylcarnitine, C5-OH 1 7 days: < days 7 years: < years: <0.10 Benzoylcarnitine 1 7 days: < days 7 years: < years: <0.10 Heptanoylcarnitine, C7 1 7 days: < days 7 years: < years: < OH-Hexanoylcarnitine, C6-OH: 1 7 days: < days 7 years: < years: <0.09
5 Phenylacetylcarnitine 1 7 days: < days 7 years: < years: <0.29 Salicylcarnitine 1 7 days: < days 7 years: < years: <0.09 Octenoylcarnitine, C8:1: 1 7 days: < days 7 years: < years: <0.88 Octanoylcarnitine, C8: 1 7 days: < days 7 years: < years: <0.78 Malonylcarnitine, C3-DC 1 7 days: < days 7 years: < years: <0.26 Decadienoylcarnitine, C10:2 1 7 days: < days 7 years: <0.12
6 8 years: <0.26 Decenoylcarnitne, C10:1 1 7 days: < days 7 years: < years: <0.47 Decanoylcarnitine, C10: 1 7 days: < days 7 years: < years: <0.88 Methylmalonyl-/succinylcarnitine, C4-DC 1 7 days: < days 7 years: < years: < OH-decenoylcarnitine, C10-1-OH 1 7 days: < days 7 years: < years: <0.13 Glutarylcarnitine, C5-DC: 1 7 days: < days 7 years: < years: <0.11 Dodecenoylcarnitine, C12:1: 1 7 days: <0.19
7 8 days 7 years: < years: <0.35 Dodecanoylcarnitine, C12: 1 7 days: < days 7 years: < years: < Methylglutarylcarnitine, C6-DC 1 7 days: < days 7 years: < years: < OH-dodecenoylcarnitine, C12:1-OH 1 7 days: < days 7 years: < years: < OH-Dodecanoylcarnitine, C12-OH: 1 7 days: < days 7 years: < years: <0.08 Tetradecadienoylcarnitine, C14:2: 1 7 days: < days 7 years: < years: <0.18 Tetradecenoylcarnitine, C14:1:
8 1 7 days: < days 7 years: < years: <0.24 Tetradecanoylcarnitine, C days: < days 7 years: < years: <0.12 Octanedioylcarnitine, C8-DC 1 7 days: < days 7 years: < years: < OH-Tetradecenoylcarnitine, C14:1-OH: 1 7 days: < days 7 years: < years: < OH-Tetradecanoylcarnitine, C14-OH: 1 7 days: < days 7 years: < years: <0.08 Hexadecenoylcarnitine, C16:1: 1 7 days: < days 7 years: < years: <0.10
9 Hexadecanoylcarnitine, C16: 1 7 days: < days 7 years: < years: < OH-Hexadecenoylcarnitine, C16:1-OH: 1 7 days: < days 7 years: < years: < OH-Hexadecanoylcarnitine, C16-OH: 1 7 days: < days 7 years: < years: <0.06 Octadecadienoylcarnitine, C18:2 (Linoleylcarnitine, C18:2) 1 7 days: < days 7 years: < years: <0.24 Octadecenoylcarnitine, C18:1 (Oleylcarnitine, C18:1) 1 7 days: < days 7 years: < years: <0.39 Octadecanoylcarnitine, C18 (Stearolycarnitine, C18) 1 7 days: < days 7 years: <0.12
10 8 years: <0.14 Dodecanediolylcarnitine, C12-DC 1 7 days: < days 7 years: < years: < OH-octadecadienoylcarnitine, C18:2-OH (3-OH-Linoleylcarnitine, C18:2-OH) 1 7 days: < days 7 years: < years: < OH-octadecenoylcarnitine C18:1-OH (3-OH-Oleylcarnitine, C18:1-OH) 1 7 days: < days 7 years: < years: < OH-octadecanoylcarnitine, C18-OH 1 7 days: < days 7 years: < years: <0.03 Interpretation: An interpretive report is provided. The individual quantitative results support the interpretation of the acylcarnitine profile, but are not diagnostic by themselves. The interpretation is based on the pattern recognition. Abnormal results are not sufficient to conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on an acylcarnitine analysis, independent biochemical or molecular genetic analyses are required. Critical Values: N/A
11 Limitations: In a few instances, false-negative results occur in the analysis of acylcarnitine profiles. Patients with carnitine deficiency may not exhibit abnormally high acylcarnitine concentrations. For some disorders, such as medium-chain ayl-coa dehydrogenase deficiency, the calculation of ratios between different acylcarnitine species provides a discriminate factor to overcome such problems. Where applicable, the calculation of such ratios will be incorporated in the routine acylcarnitine analysis. Informative profiles may also not be detected in some disorders where the accumulation of diagnostic acylcarnitnes is a reflection of the residual activity of the defective enzyme, the dietary load of precursors, and the anabolic/catabolic and treatment status of a patient. Patients with carnitine deficiency may not exhibit abnormally high acylcarnitine concentrations. If the results are indicative for carnitine deficiency, the interpretation will include a remark that this limits the diagnostic value of the test and repeat analysis may be considered following carnitine supplementation. Follow-up testing such as in vitro enzyme assays or molecular genetic testing may be recommended following abnormal acylcarnitine results. It is not advisable to intentionally stress the patient s metabolism (e.g., fasting test) prior to specimen collection for acylcarnitine analysis. Methodology: Flow-injection Analysis Tandem Mass Spectrometry (FIA-MS/MS) References: Mayo Medical Laboratory Website (February 2017) Updates: 12/8/2015: 19 new analytes added. 2/15/2017: Tube update.
Supplement: Table 1 List of analyzed metabolites Acylcarnitines (41)
Supplement: Table 1 List of analyzed metabolites Acylcarnitines (41) C0 Carnitine C2 Acetylcarnitine C3 Propionylcarnitine C3:1 Propenoylcarnitine semi- C3-OH Hydroxypropionylcarnitine semi- C4 Butyrylcarnitine
Newborn screening panel by American Health Information Community (AHIC)
Page 1 of 5 54089-8 Newborn screening panel by American Health Information Community (AHIC) NAME Component Property Time System Scale Method Example Units Newborn screening panel - Pt ^Patient - AHIC BASIC
Annotation of potential isobaric and isomeric lipid species analyzed using the MxP Quant 500 Kit
Annotation of potential isobaric and isomeric lipid species analyzed using the MxP Quant 500 Kit Introduction The MxP Quant 500 kit enables the analysis of up to 630 metabolites covering 26 compound classes
Short and Long Term Stability of 3-Hydroxy acylcarnitines Enriched Dried Blood Spots Stored at Various Temperatures and Humidities
Short and Long Term Stability of 3-Hydroxy acylcarnitines Enriched Dried Blood Spots Stored at Various Temperatures and Humidities Timothy Lim Biochemical Mass Spectrometry Laboratory Newborn Screening
List of Metabolites: MxP Quant 500 Kit
List of Metabolites: MxP Quant 500 Kit Trigonelline TMAO Trigonelline Trimethylamine N-oxide Alkaloids (1) Amine Oxides (1) Amino Acids (20) Ala Alanine Leu Leucine Arg Arginine Lys Lysine Asn Asparagine
Joshua Hellmann Foundation Newborn Metabolic Screening Program Clinical Protocol
Joshua Hellmann Foundation Newborn Metabolic Screening Program Clinical Protocol Centre of Inborn Errors of Metabolism The Chinese University of Hong Kong Last update: 14 February 2014 (version 6) Joshua
NEWBORN METABOLIC SCREEN, MINNESOTA
Lab Dept: Test Name: Chemistry NEWBORN METABOLIC SCREEN, MINNESOTA General Information Lab Order Codes: Synonyms: CPT Codes: Test Includes: PKUN Newborn Screen for Hyopothyroidism, Phenylketonuria (PKU),
Xiaolei Xie, Marta Kozak. Thermo Fisher Scientific, 355 River Oaks Parkway, San Jose, CA Introduction
Comparison of Non-derivatization and Derivatization Tandem Mass Spectrometry Methods for Analysis of Amino Acids, Acylcarnitines, and Succinylacetone in Dried Blood Spots Xiaolei Xie, Marta Kozak Thermo
PARANEOPLASTIC AUTOANTIBODY EVALUATION, SERUM
Lab Dept: Test Name: Serology PARANEOPLASTIC AUTOANTIBODY EVALUATION, SERUM General Information Lab Order Codes: PAES Synonyms: CPT Codes: Acetylcholine Receptor (Muscle AchR) Antibodies; Ovarian Cancer-Related
SERVICE SCHEDULE, FEES & GUIDELINES FOR SAMPLE SHIPMENT
SERVICE SCHEDULE, FEES & GUIDELINES FOR SAMPLE SHIPMENT ACYLCARNITINE PROFILE: PLASMA/SERUM, PKU CARD, WHOLE BLOOD Amount of sample: Plasma (heparinized is preferred, EDTA acceptable) or serum: 0.5 ml
Use of a Tandem Mass Spectrometry Research Method for the Analysis of Amino Acids and Acylcarnitines in Dried Blood Spots
Use of a Tandem Mass Spectrometry Research Method for the Analysis of Amino Acids and Acylcarnitines in Dried Blood Spots Xiaolei Xie and Marta Kozak Thermo Fisher Scientific, San Jose, CA, USA Application
Cleveland Clinic Laboratories
Cleveland Clinic Laboratories Technical Update December 2018 Cleveland Clinic Laboratories is dedicated to keeping you updated and informed about recent testing changes. This Technical Update is provided
Pathology of Pediatric Gastrointestinal and Liver Disease. Pierre Russo Eduardo D. Ruchelli David A. Piccoli Editors Second Edition
Pathology of Pediatric Gastrointestinal and Liver Disease Pierre Russo Eduardo D. Ruchelli David A. Piccoli Editors Second Edition 123 13 The Liver in Metabolic Disease and may abate or disappear without
Acylcarnitine measurement in blood spots: methodological aspects, problems and pitfalls with reference to the ERNDIM QA scheme
Acylcarnitine measurement in blood spots: methodological aspects, problems and pitfalls with reference to the ERNDIM QA scheme Charles Turner Laboratory Guy s Hospital (Evelina Childrens Hospital, St Thomas
Mass Spectrometry in Precision Medicine --A Penn Experience in Metabolomics and TDM
Mass Spectrometry in Precision Medicine --A Penn Experience in Metabolomics and TDM Ping Wang, PhD, DABCC, FACB Chief of Clinical Chemistry Director of Core Laboratory Hospital of University of Pennsylvania
Targeted metabolomic profiling in rat tissues reveals sex differences
www.nature.com/scientificreports Received: 4 October 2017 Accepted: 2 March 2018 Published: xx xx xxxx OPEN Targeted metabolomic profiling in rat tissues reveals sex differences Margherita Ruoppolo 1,2,3,
Donald H. Chace, 1 * Steven L. Hillman, 2 Johan L. K. Van Hove, 2 and Edwin W. Naylor 1. and Genetics
Clinical Chemistry 43:11 2106 2113 (1997) Molecular Pathology and Genetics Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots
METABOLITE TEST REQUISITION FORM SPECIMEN INFORMATION. Specimen Date: Time: ADDITIONAL INFORMATION
METABOLITE TEST REQUISITION FORM Baylor Institute of Metabolic Disease Last Name: First Name: DOB/Age: Gender: Male Female Medical Record #/Patient ID #: PATIENT INFORMATION - OR Place Patient Sticker
METABOLITE TEST REQUISITION FORM
METABOLITE TEST REQUISITION FORM Baylor Scott and White Research Institute Last Name: First Name: DOB/Age: Gender: Male Female Medical Record #/Patient ID #: PATIENT INFORMATION OR Place Patient Sticker
Patient with multiple acyl-coa dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report
Goh et al. BMC Medical Genomics (2018) 11:37 https://doi.org/10.1186/s12920-018-0356-8 CASE REPORT Open Access Patient with multiple acyl-coa dehydrogenase deficiency disease and ETFDH mutations benefits
CATECHOLAMINE, FREE, RANDOM URINE
Lab Dept: Test Name: Urine/Stool CATECHOLAMINE, FREE, RANDOM URINE General Information Lab Order Codes: Synonyms: CPT Codes: Test Includes: CATCR Catecholamine Fractionation, Free, Random Urine 82384 Catecholamines;
CHLAMYDIA/GC AMPLIFIED RNA ASSAY
Lab Dept: Test Name: Microbiology/Virology CHLAMYDIA/GC AMPLIFIED RNA ASSAY General Information Lab Order Codes: CGRNA Synonyms: CPT Codes: Test Includes: Chlamydia trachomatis/neisseria gonorrhoeae by
Guideline for the diagnosis and management of isovaleryl-coa-dehydrogenase deficiency (isovaleric acidemia) - a systematic review -
Guideline for the diagnosis and management of isovaleryl-coa-dehydrogenase deficiency (isovaleric acidemia) - a systematic review - Guideline development group International interdisciplinary guideline
MRC-NIHR NPC Assay Portfolio
MRC-NIHR NPC Assay Portfolio No one technology platform or assay can provide the comprehensive coverage of the metabolome needed to provide insight into complex biological processes which is why the MRC-NIHR
March Molecular diagnostics. Update distribution changes. Billing and compliance. Hematology. Immunology. Referral testing
March 2016 Update distribution changes Billing and compliance Compliance Drug Analysis CPT change Hematology Hemoglobin A1c, Screening Reference Range Change Immunology Testing schedule changes Vitamin
Tests recently added to the NMS Labs test menu. New Tests are effective immediately.
Immediate Action In our continuing effort to provide you with the highest quality toxicology laboratory services available, we have compiled important changes regarding a number of tests we perform. Listed
ANATOMY OF A METABOLIC CRISIS: FAOD-style. Mark S. Korson, MD Tufts Medical Center Boston, MA
ANATOMY OF A METABOLIC CRISIS: FAOD-style Mark S. Korson, MD Tufts Medical Center Boston, MA NORMAL PHYSIOLOGY Anabolic Eating well Calories eaten > body s needs BRAIN uses GLUCOSE MUSCLE uses GLUCOSE
Lab Guide 2019 Metabolic Section Lab Guide
Lab Guide 2019 Metabolic Section Lab Guide Quantitative Amino acids Plasma Plasma. Container/Tube: Preferred EDTA, Place immediately in ice. Acceptable: lithium heparin, sodium heparin. Patient preparation:
HA Convention 2016 Master course How to Handle Abnormal Newborn Metabolic Screening Results Causes, Management and Follow up
HA Convention 2016 Master course How to Handle Abnormal Newborn Metabolic Screening Results Causes, Management and Follow up Dr. Josephine Chong Clinical Professional Consultant Centre of Inborn Errors
April 28, RE: Immediate Action test change notification. Dear Valued Client:
April 28, 2010 RE: Immediate Action test change notification Dear Valued Client: The following pages detail important information regarding a test requiring database modifications. Please be advised that
MS/MS Standards. Enriching Scientific Discovery
Cambridge Isotope Laboratories, Inc. isotope.com RESEARCH PRODUCTS MS/MS Standards NSK Standards Formulation and Analysis of Acylcarnitine Standards Butyl Esters Data Chart Free Acid Data Chart Enriching
Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: Experience of the Pilot Study in Andhra Pradesh, India
Indian J Pediatr (August 2011) 78(8):953 960 DOI 10.1007/s12098-011-0398-9 ORIGINAL ARTICLE Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: Experience of the Pilot Study
27027 Tourney Road Valencia, CA 91355 800 421 7110 www.specialtylabs.com Test Updates November 26, 2008 Dear Colleague: We are pleased to announce the availability of two new assays for an expanded evaluation
From 11/20/2008 through 3/11/2013. Table of Contents
Health Information Services Patient Extract From 11/20/2008 through 3/11/2013 Table of Contents Cardiology Discharge Reports Endoscopy Laboratory Neurophysiology Notes Operative Report Pathology Pulmonary
Metabolomics analyses to better understand complex phenotypes ZHONGHAO YU
Metabolomics analyses to better understand complex phenotypes ZHONGHAO YU München 2013 Aus dem HelmholtzZentrum München Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH) Institut für Epidemiologie
Tests that have had changes to the method/ CPT code, units of measurement, scope of analysis, reference comments, or specimen requirements.
Immediate Action In our continuing effort to provide you with the highest quality toxicology laboratory services available, we have compiled important changes regarding a number of tests we perform. Listed
The pages that follow contain information critical to protecting the health of your patients and the citizens of Colorado.
Health Alert Network Tri-County Health Department Serving Adams, Arapahoe and Douglas Counties Phone 303/220-9200 Fax 303/741-4173 www.tchd.org Follow us on Twitter @TCHDHealth and @TCHDEmergency John
and Genetics Clinical Chemistry 47: (2001) Molecular Diagnostics
Clinical Chemistry 47:11 1945 1955 (2001) Molecular Diagnostics and Genetics Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots: A Two-Year Summary
MS/MS APPROACHES TO CLINICAL TESTING FOR INBORN ERRORS OF METABOLISM
MS/MS APPROACHES TO CLINICAL TESTING FOR INBORN ERRORS OF METABOLISM Tina M. Cowan, PhD Director, Clinical Biochemical Genetics Laboratory Stanford University Medical Center Presented at the 2011 Stanford
TRANSFUSION REACTION EVALUATION
Lab Dept: Test Name: Transfusion Services TRANSFUSION REACTION EVALUATION General Information Lab Order Codes: Synonyms: CPT Codes: Test Includes: TRXR Transfusion Complication Workup; Hemolytic reaction
Alvaro Serrano Russi MD University of Iowa Hospitals and Clinics
Retrospective Analysis of the Region 4 Post Analytical Tool and Confirmatory Testing for Long Chain Fatty Acid Oxidation Disorders Screened in the State of Iowa Alvaro Serrano Russi MD University of Iowa
in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase
The American Journal of Human Genetics, Volume 98 Supplemental Data Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain
Tests that have had changes to the method/ CPT code, units of measurement, scope of analysis, reference comments, or specimen requirements.
Immediate Action In our continuing effort to provide you with the highest quality toxicology laboratory services available, we have compiled important changes regarding a number of tests we perform. Listed
Carnitine / Acylcarnitines Dried Blood Spots LC-MS/MS Analysis Kit User Manual
Page 1 / 14 Carnitine / Acylcarnitines Dried Blood Spots LC-MS/MS Analysis Kit User Manual ZV-3051-0200-15 200 Page 2 / 14 Table of Contents 1. INTENDED USE... 3 2. SUMMARY AND EXPLANATION... 3 3. TEST
Annual Report Zurich 2017 Date of issue: 19 th April 2018 Amended report issued: 1 st May
ERNDIM Administration Office Manchester Centre for Genomic Medicine 6 th Floor, St Mary's Hospital, Oxford Road, Manchester M13 9WL, United Kingdom. Tel: +44 161 276 6741 Fax: +44 161 850 1145 Email: admin@erndim.org
LESS THAN 2 HOURS OLD.
Update September 28, 2016 Ova and Parasite Interpretive Comment Expanded O&P will be having the following interpretive comment added: Cryptosporidium, Cyclospora and Microsporidia are not readily detected
Information for health professionals
Introduction of a new screening test for newborn babies in Wales Newborn bloodspot screening for Medium chain acyl-coa dehydrogenase deficiency (MCADD) Newborn bloodspot screening for MCADD is being introduced
BASIC METHODOLOGICAL STRATEGIES IN METABOLOMIC RESEARCH
SECTION 1 BASIC METHODOLOGICAL STRATEGIES IN METABOLOMIC RESEARCH 1 Exploring the Human Metabolome by Nuclear Magnetic Resonance Spectroscopy and Mass Spectrometry David S. Wishart Although most of the
March Immunoglobulins, Total (IgA, IgE, IgG, IgM) Interleukin-6 (IL6) Protein Electrophoresis, CSF. Thyrotropin Receptor Antibody
University of Washington March 2012 TEST CHANGE Alpha 1-Antitrypsin Anti-IgE Receptor Antibody Anti-Mullerian Hormone Aquaporin-4 Receptor Antibody ColoSeq - Polyposis Complement testing, C3, C4 Everolimus
Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry
The new england journal of medicine original article Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry Bridget Wilcken, M.B., Ch.B., Veronica Wiley, Ph.D., Judith Hammond,
Organisation of the screening process
ChromSystemS Informationen für Geschäftskunden www.chromsystems.de Early detection of congenital metabolic disorders Newborn screening by tandem mass spectrometry Dr. rer. nat. Uta Ceglarek, Leipzig University
2017 Newborn Screening and Genetic Testing Symposium September 10, 2017
Removing Short-chain Acyl-CoA Dehydrogenase (SCAD) Deficiency and Isobutyryl-CoA Dehydrogenase Deficiency (IBD) from the Newborn Screening Panel: Michigan s Experience 2017 Newborn Screening and Genetic
Specimen Type Specimen Container Transport Environment Preferred 2mL(0.5) Serum Clot Activator SST (Red/Gray or Tiger Top) Refrigerated
Aldolase Order Name: ALDOLASE Test Number: 3600150 Aldolase Enz Preferred 2mL(0.5) Serum Clot Activator SST (Red/Gray or Tiger Top) Refrigerated Special Hemolyzed specimens are not acceptable. Allow specimen
Step-by-Step Instructions For OraQuick HCV Rapid Antibody Test
Step-by-Step Instructions For OraQuick HCV Rapid Antibody Test Complexity: WAIVED for fingerstick whole blood and venipuncture whole blood. A Certificate of CLIA Waiver is required to perform the test
The Arctic Variant of CPT-1A
The Arctic Variant of CPT-1A Matthew Hirschfeld, MD/PhD Department of Pediatric Hospital Medicine Alaska Native Medical Center Anchorage, AK Background CPT-1 = carnitine palmitoyltransferase type 1 Expressed
Newborn Screening & Methods for Diagnosing Inborn Errors of Metabolism
Newborn Screening & Methods for Diagnosing Inborn Errors of Metabolism Patricia Jones, PhD DABCC FACB UT Southwestern Medical Center Children s Medical Center Dallas, Texas Learning Objectives Justify
Mitochondrial Fatty Acid Oxidation Deficiencies Prof. Niels Gregersen
Mitochondrial Fatty Acid Oxidation Deficiencies Research Unit for Molecular Medicine Clinical Institute Aarhus University Hospital and Faculty of Health Sciences Aarhus University, Aarhus, Denmark 1 Menu
July Monthly Update, Quest Diagnostics Nichols Institute, Valencia
NEW TESTS Please Note: Not all test codes assigned to each assay are listed in the table of contents. Please refer to the complete listing on the page numbers indicated. Test Name Effective Date Page #
St. Louis University Forensic Toxicology Laboratory
St. Louis University Forensic Toxicology Laboratory Specimen Collection Guidelines Postmortem Forensic Toxicology Sample Collection Guidelines Scope The provides comprehensive analysis of general unknowns
Anti-FceR (CU Index) Antibody
Anti-FceR (CU Index) Antibody Order Name: ANTI-FCER Test Number: 5587500 REV DATE:5/31/2007 Anti-FceR (CU Index) Antibody CU Index Preferred 2 ml (1mL) Serum Clot Activator SST (Red/Gray or Tiger Top)
27027 Tourney Road Valencia, CA 91355 800 421 7110 www.specialtylabs.com Test Updates September 25, 2009 Dear Colleague: Specialty Laboratories is pleased to announce a new assay, PT and PTT-LA Mixing
January Billing and compliance. Chemistry. Help us help you. Referral testing. Additional CPT code changes announced for 2015
January 2015 Billing and compliance Additional CPT code changes announced for 2015 Chemistry CA 27.29 conversion to CA 15-3 nearing completion Vitamin B12 and LD, Total specimen change Timed Urine Protein
Routine Newborn Screening, Testing the Newborn Inherited Metabolic Disorders Update August 2015
Routine Newborn Screening, Testing the Newborn Inherited Metabolic Disorders Update August 2015 Metabolic birth defects can cause physical problems, mental retardation and, in some cases, death. It is
Newborn Screen & Development Facts about the genetic diseases new since March 2006 (Excluding Cystic Fibrosis)
Newborn Screen & Development Facts about the genetic diseases new since March 2006 (Excluding Cystic Fibrosis) 1) Argininosuccinic acidemia (ASA) a) Incidence: ~1 in 70,000 b) Deficiency in an enzyme of
BIOTIN (BIOTINIDASE) DEFICIENCY Marc E. Tischler, PhD; University of Arizona
BIOTIN (BIOTINIDASE) DEFICIENCY Marc E. Tischler, PhD; University of Arizona BIOTIN (BIOTINIDASE) DEFICIENCY biotin in the body is recycled by its removal from carboxylase enzymes to which it is attached
The information contained here may be very important to your practice. Please take a moment to review this document.
September 2017 Dear Healthcare Provider, The information contained here may be very important to your practice. Please take a moment to review this document. TEST BULLETIN T-SPOT TB TESTING Please see
Parent and Neutral Loss Monitoring on a Quadrupole Ion Trap Mass Spectrometer: Screening of Acylcarnitines in Complex Mixtures
Anal. Chem. 2002, 74, 5799-5806 Parent and Neutral Loss Monitoring on a Quadrupole Ion Trap Mass Spectrometer: Screening of Acylcarnitines in Complex Mixtures Joseph E. McClellan, Scott T. Quarmby, and
Isovaleric Acidemia: Quick reference guide
Isovaleric Acidemia: Quick reference guide Introduction Isovaleric acidemia (IVA) is an inborn error of the leucine pathway caused by defects of the isovaleryl-oadehydrogenase (IV). The clinical presentation
Documentation, Codebook, and Frequencies
Documentation, Codebook, and Frequencies Laboratory Survey Years: 2005 to 2006 SAS Transport File: B12_D.XPT March 2008 NHANES 2005 2006 Data Documentation Laboratory Assessment: (B12_D) First Published:
Leucine and Protein Metabolism in Obese Zucker Rats
Leucine and Protein Metabolism in Obese Zucker Rats Pengxiang She 1, Kristine C. Olson 1, Yoshihiro Kadota 2, Ayami Inukai 2, Yoshiharu Shimomura 2, Charles L. Hoppel 3, Sean H. Adams 4, Yasuko Kawamata
Inborn Errors of Metabolism. Metabolic Pathway. Digestion and Fasting. How is Expanded Newborn Screening Different? MS/MS. The body is a factory.
Inborn Errors of Metabolism The body is a factory. Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects
A rough guide to Acylcarnitines
A rough guide to Acylcarnitines Roy Talbot & Nigel Manning Roy.Talbot@sch.nhs.uk Dept. of Clinical Chemistry, Sheffield Children s Hospital Menu Acylcarnitines Basic Tandem MS theory SCADD MCADD LCHADD
Analysis of acylcarnitine profiles in umbilical cord blood and during the early neonatal period by electrospray ionization tandem mass spectrometry
ISSN 0100-879X Volume 45 (6) 473-564 June 2012 BIOMEDICAL SCIENCES AND CLINICAL INVESTIGATION Braz J Med Biol Res, May 2012, Volume 45(6) 546-556 doi: 10.1590/S0100-879X2012007500056 Analysis of acylcarnitine
COLLECTION TUBES FOR PHLEBOTOMY
COLLECTION TUBES FOR PHLEBOTOMY Red Top None Blood clots, and the serum is separated by centrifugation Chemistries, Immunology and Serology, Blood Bank (Crossmatch) Gold Top None Serum separator tube (SST)
Tests recently added to the NMS Labs test menu. New Tests are effective immediately.
Immediate Action In our continuing effort to provide you with the highest quality toxicology laboratory services available, we have compiled important changes regarding a number of tests we perform. Listed
Monitoring the Health of Transplanted Organs DONOR GENOTYPING MANUAL
Monitoring the Health of Transplanted Organs DONOR GENOTYPING MANUAL 10101 Innovation Drive. Suite 600. Wauwatosa, WI 53226 1-888-214-3151 MKT-008 v3.0 MKT-008 v3.0 TABLE OF CONTENTS I Intended Use...
Russell-Silver syndrome (RSS)
GENETIC DIAGNOSTIC LABORATORY Russell-Silver syndrome (RSS) Background: Russell-Silver syndrome (RSS, OMIM 103280, 180860) is a growth disorder characterized by intrauterine and postnatal growth retardation,
ERNDIM QA Scheme for qualitative blood spot acylcarnitine analysis. Annual Report 2010
UniversitätsKlinikum Heidelberg Universitätsklinik für Kinder- und Jugendmedizin Stoffwechselzentrum Heidelberg Stoffwechsellabor Im Neuenheimer Feld 430 69120 Heidelberg To Stoffwechselzentrum Heidelberg
Patient Preparation Unique patient preparation requirements are listed under each test in the Test Directory.
Specimen Collection Lab results are only as good as the specimen provided. Patient preparation, venipuncture technique, specimen handling, and transportation can all affect the quantity of results. Health
Clinical Management of Organic Acidemias and OAA Natural History Registry. Kim Chapman MD PhD Children s National Rare Disease Institute
Clinical Management of Organic Acidemias and OAA Natural History Registry Kim Chapman MD PhD Children s National Rare Disease Institute Disclosure Nothing to disclose concerning this lecture Organic acid?
Technical Bulletin No. 161
CPAL Central Pennsylvania Alliance Laboratory Technical Bulletin No. 161 cobas 6800 HIV-1 Viral Load Assay - New Platform - June 1, 2017 Contact: Heather Habig, MLS (ASCP) CM, MB CM, 717-851-1422 Operations
In-Common Laboratories
Stability Information: Specimen stability information has been added or revised for the following tests: Vitamin B6, Dehydroepiandrosterone, Thyroid Antibodies (Thyroid Peroxidase Ab & Thyroglobulin Ab)
1. PROTOCOL. Comparison Study Summary. Tuality Healthcare 324 SE 9 th Ave. Suite E Hillsboro, OR July 30, 2014
Comparison Study Summary Tuality Healthcare 324 SE 9 th Ave. Suite E Hillsboro, OR 97123 July 30, 2014 1. PROTOCOL This study was conducted on July 24 th, 2014 at Tuality Healthcare, Hillsboro, OR. The
Tests that have had changes to the method/ CPT code, units of measurement, scope of analysis, reference comments, or specimen requirements.
In our continuing effort to provide you with the highest quality toxicology laboratory services available, we have compiled important changes regarding a number of tests we perform. Listed below are the
Title: Assessing Recommendations Related To Timeliness of Newborn Screening
Title: Assessing Recommendations Related To Timeliness of Newborn Screening Purpose: In January 2014, the Secretary s Discretionary Advisory Committee on Heritable Diseases on Newborns and Children (Committee)
EQA Schemes Catalogue 2018
EQA Schemes Catalogue 2018 ERNDIM Administration Office Manchester Centre for Genomic Medicine 6th floor, St Mary s Hospital Oxford Road, Manchester M13 9WL, UK Tel: +44 161 276 6741 Fax: +44 161 850 1145
Color tube for vitamin d
Color tube for vitamin d Gogamz Menu What's New and Beneficial About Broccoli. Since our recommended cooking method for broccoli has always been Quick Steaming, we are excited to report on numerous. Feb
1 PROTOCOL. Comparison Study Summary. Springs Memorial Hospital. Springs Memorial Hospital 800 W. Meeting St. Lancaster, SC (803)
Comparison Study Summary Springs Memorial Hospital 800 W. Meeting St. Lancaster, SC 29720 (803) 286-1480 February 10, 2016 1 PROTOCOL This evaluation was conducted on February 10, 2016 at Springs Memorial
PCL ALVERNO INSTALLING NEW ANALYZERS AND AUTOMATION
October 2014 Dear Healthcare Provider, The information contained in the packet may be very important to your practice. Below is a quick summary of the items that are included in this mailing. Please take
Hydroxycarboxylic acid receptors are essential for breast cancer cells to control their lipid/fatty acid metabolism
Hydroxycarboxylic acid receptors are essential for breast cancer cells to control their lipid/fatty acid metabolism Supplementary Material Supplemental Tables Table S1: Origin and pathology verification
National Metabolic Biochemistry Network Guidelines for the investigation of hypoglycaemia in infants and children
National Metabolic Biochemistry Network Guidelines for the investigation of hypoglycaemia in infants and children Aim To provide guidance on the biochemical investigation of hypoglycaemia in infants and
Alkaline Phosphatase, Bone Specific
Alkaline Phosphatase, Bone Specific Order Name: ALK P BONE Test Number: 3656500 REV DATE:11/5/2010 Alkaline Phosphatase, Bone Specific IMMENZ Preferred 1 ml (0.3) Serum Clot Activator SST (Red/Gray or
Clinical Reference Manual
Clinical Reference Manual February 23, 2018 For the most up-to-date Reference Manual information, please visit our web site at http://www.slh.wisc.edu/wslhapps/refman/wslhsearch.php 465 Henry Mall Madison,
Lab Director: Russell P. Tracy, Ph.D. Coordinator: Elaine Cornell Lab/Project Manager: Rebekah Boyle, M.S. Repository Manager: Sarah Nightingale
Presented by: Jessica Rooney Colchester Research Facility Laboratory for Clinical Biochemistry Research (LCBR) University of Vermont Department of Pathology and Laboratory Medicine Lab Director: Russell
The choice is yours. Biocrates offers the technology to detect and quantify over 600 metabolites
List of Metabolites We provide the Phenotype to the Genotype! Metabolite menu Docr. 35006 V 4.0 2017-01 The choice is yours. Biocrates offers the technology to detect and quantify over 600 metabolites
IU Health Pathology Laboratory. DOS Updates
IU Health Pathology Laboratory News Bulletin February 23, 2012 DOS Updates Apolipoprotein B QN Ship refrigerated plasma instead of frozen; Frozen plasma is acceptable however. Myoglobin, Serum Discontinued
March Monthly Update, Quest Diagnostics Nichols Institute, Valencia
NEW TESTS Please Note: Not all test codes assigned to each assay are listed in the table of contents. Please refer to the complete listing on the page numbers indicated. Test Code Test Name Effective Date
HEDS Discussion Paper 06/03
HEDS Discussion Paper 06/03 Disclaimer: This is a Discussion Paper produced and published by the Health Economics and Decision Science (HEDS) Section at the School of Health and Related Research (ScHARR),
Miso Kang 1,2, Hye Jin Yoo 1, Minjoo Kim 3, Minkyung Kim 3 and Jong Ho Lee 1,2,3*
Kang et al. Lipids in Health and Disease (2018) 17:237 https://doi.org/10.1186/s12944-018-0887-1 RESEARCH Open Access Metabolomics identifies increases in the acylcarnitine profiles in the plasma of overweight
HML Update. Summer 2009 Volume 15, No. 3. Keeping Our Clients Informed Questions or Comments: Call
HML Update Summer 2009 Volume 15, No. 3 Keeping Our Clients Informed Questions or Comments: Call 651-232-3500 Inside: Panel Changes...1-2 New Panels...2-3 H1N1... 3 Note of Appreciation... 3 BD Vacutainer