DOCSLIB.ORG

Nobarcodes Biochemmolecular

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Nobarcodes Biochemmolecular General Test Requisition Form Please complete every field and tick box clearly. BioChemical and Molecular PATIENT INFORMATION Patient’s First Name Patient’s Last Name MM/ DD/ YY Patient’s Street Address Patient’s Date of Birth Patient’s Email City / Town State Zip Code Country Patient’s Preferred Phone Ethnicity (check all that apply): African-AmericanAsian (China, Japan, Korea) Caucasian/N.European/S.European Biological Sex: Finnish French Canadian Hispanic Jewish- Ashkenazi Jewish- Sephardic Male Female Mediterranean Middle Eastern (Saudi Arabia, Qatar, Iraq, Turkey) Native American E. Indian Unknown Ambiguous Southeast Asian (Vietnam, Cambodia, Thailand) South Asian (India, Pakistan) Other (specify) PROVIDER INFORMATION REQUESTING PROVIDER Provider’s First Name Provider’s Last Name Clinic / Hospital / Institution Name Provider’s Phone Provider’s NPI Reporting Street Address Provider’s Email City / Town State Zip Code Country Provider’s Fax SEND ADDITIONAL REPORTS TO: GENETIC COUNSELORADDITIONAL PROVIDER NA GENETIC COUNSELOR (IF APPLICABLE) Genetic Counselor’s Name Genetic Counselor’s Email Genetic Counselor’s Phone Genetic Counselor’s Fax ADDITIONAL PROVIDER CONTACT Additional Provider’s Name Additional Provider’s Email Additional Provider’s Phone Additional Provider’s Fax SPECIMEN INFORMATION AM SAMPLE TYPE: Whole Blood (Biochemical and Molecular) Other MM/ DD/ YY : PM Date of Sample Collection Time of Sample Collection Dried Blood Spots (Biochemical and Molecular) Saliva (Molecular only) 1 BILLING INFORMATION INSTITUTIONAL BILLING Institution / Organization Contact Name Institution Phone Institutional Billing Street Address Institution Email City / Town State Zip Code Institution Fax SELF PAY Please make checks payable to: PerkinElmer Genetics, Inc. Cashier Check $ Amount Enclosed Credit Card (Please fill out all information): CVV Credit Card Number MM/ YY Cardholder Billing Street Address Card Exp. Date Cardholder Phone City / Town State Zip Code Cardholder Printed Name as Appears on Card Cardholder Signature 2 PANEL TESTS METABOLIC ANALYTES AND PROFILES - BIOCHEMICAL TEST CODE DESCRIPTION SPECIMEN AC ACYLCARNITINE PROFILE DBS, WB AA AMINO ACID PROFILE DBS, WB OA ORGANIC ACID PROFILE DBS, WB GAL GALACTOSEMIA - GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ENZYME ANALYSIS AND TOTAL GALACTOSE. DBS, WB LSD ENZYME PANEL: FABRY DISEASE, GAUCHER DISEASE, KRABBE DISEASE, MAROTEAUX-LAMY SYNDROME (MPS VI) LSDALL DBS, WB MORQUIO A SYNDROME (MPS IVA), HURLER SYNDROME (MPS I), NIEMANN PICK DISEASE TYPE A/B, POMPE DISEASE HGB SICKLE CELL & OTHER HEMOGLOBINOPATHIES: ISOELECTRIC FOCUSING GEL ELECTROPHORESIS OF HEMOGLOBINS DBS, WB STEPONE® BIOCHEMICAL PROFILE - INCLUDES: 17OHP, AA, AC, BIO, IRT, GAL, HGB, TSH, GLA, ABG, GALC, IDUA, ASM, GAA, XALD, StepOne DBS, WB SCID, G6DNA METABOLIC / NBS DISORDERS - MOLECULAR LSDS LYSOSOMAL STORAGE DISORDER (LSD) GENE SEQUENCING PANEL (12 GENES) DBS, WB, SV NBSS NEWBORN SCREENING (NBS) GENE SEQUENCING PANEL (82 GENES) DBS, WB, SV NBSLSDS NBS AND LSD GENE SEQUENCING PANEL (94 GENES) DBS, WB, SV SCIDS SEVERE COMBINED IMMUNODEFICIENCY (SCID) GENE SEQUENCING PANEL (26 GENES) DBS, WB, SV MCCS 3-METHYLCRONTONYL-COA-CARBOXYLASE DEFICIENCY: MCCC1, MCCC2 GENE SEQUENCING DBS, WB, SV BIOPRECS BIOPTERIN DEFECT IN COFACTOR RECYCLING: PCBD1, QDPR GENE SEQUENCING DBS, WB, SV BIOPSYNS BIOPTERIN DEFECT IN COFACTOR SYNTHESIS: GCH1, PTS GENE SEQUENCING DBS, WB, SV MMAS COBALAMIN A / B DEFICIENCY: MMAA, MMAB GENE SEQUENCING DBS, WB, SV GA2S GLUTARIC ACIDEMIA TYPE II: ETFA, ETFB, ETFDH GENE SEQUENCING DBS, WB, SV LCHADS LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY: HADHA, HADHB GENE SEQUENCING DBS, WB, SV MSUDS MAPLE SYRUP URINE DISEASE: BCKDHA, BCKDHB, DBT GENE SEQUENCING DBS, WB, SV PCCS PROPIONIC ACIDEMIA: PCCA, PCCB GENE SEQUENCING DBS, WB, SV NEWBORN AND PEDIATRIC GENE PANELS NBSS NEWBORN SCREENING (NBS) GENE SEQUENCING PANEL (82 GENES) DBS, WB, SV NBSLSDS NBS AND LSD GENE SEQUENCING PANEL (94 GENES) DBS, WB, SV NBSSEXP EXPANDED NEWBORN SCREENING (NBS) GENE SEQUENCING PANEL (275 GENES)* DBS, WB, SV NEOSEQ NEOSEQ NEWBORN AND PEDIATRIC GENE PANEL (1744 GENES)* DBS, WB, SV *Individual gene tests can be ordered from the panel. Please inquiry by calling the lab. INDIVIDUAL BIOCHEMICAL AND GENE TESTS METABOLIC / NBS DISORDERS - BIOCHEMICAL AC ACYLCARNITINE PROFILE DBS, WB AA AMINO ACID PROFILE DBS, WB OA ORGANIC ACID PROFILE DBS, WB BIO BIOTINIDASE DEFICIENCY (COMPLETE/PARTIAL) - BIOTINIDASE ENZYME ANALYSIS DBS, WB 17OHP CONGENITAL ADRENAL HYPERPLASIA - 17Α HYDROXYPROGESTERONE (17 OHP) DBS, WB TSH CONGENITAL HYPOTHYROIDISM - THYROID-STIMULATING HORMONE (TSH) DBS, WB T4 CONGENITAL HYPOTHYROIDISM - THYROXINE (T4) DBS, WB IRT CYSTIC FIBROSIS (NOT VALID AFTER 90 DAYS OF AGE) - IMMUNOREACTIVE TRYPSIN (IRT) DBS, WB DMDCK DUCHENNE MUSCULAR DYSTROPHY - CREATINE KINASE ENZYME ANALYSIS DBS, WB GLA FABRY DISEASE - ALPHA-GALACTOSIDASE A ENZYME ANALYSIS DBS, WB GAL GALACTOSEMIA - GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ENZYME ANALYSIS AND TOTAL GALACTOSE. DBS, WB GALMON GALACTOSEMIA MONITORING - GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ENZYME ANALYSIS AND TOTAL GALACTOSE. DBS, WB ABG GAUCHER DISEASE - GLUCOCEREBROSIDASE (GLUCOSYLCERAMIDASE) ENZYME ANALYSIS DBS, WB G6PD GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY DBS, WB GALC KRABBE DISEASE - GALACTOCEREBROSIDASE ENZYME ANALYSIS DBS, WB IDUA MPS I (HURLER SYNDROME) - ALPHA-L-IDURONIDASE ENZYME ANALYSIS DBS, WB IDS MPS II (HUNTER DISEASE) - IDURONATE 2-SULFATASE ENZYME ANALYSIS DBS, WB GALNS MPS IVA (MORQUIO A SYNDROME) - GALACTOSAMINE-6-SULFATASE ENZYME ANALYSIS DBS, WB MPS VI (MAROTEAUX-LAMY SYNDROME) - ARYLSULFATASE B ENZYME ANALYSIS ARSB MPS I (HURLER SYNDROME) - ALPHA-L-IDURONIDASE ENZYME ANALYSIS DBS, WB ASM NIEMANN PICK DISEASE TYPE A/B - ACID SPHINGOMYELINASE ENZYME ANALYSIS DBS, WB PKMON PKU MONITORING - PHENYLALANINE DBS, WB GAA POMPE DISEASE - ACID ALPHA-GLUCOSIDASE ENZYME ANALYSIS DBS, WB HGB SICKLE CELL & OTHER HEMOGLOBINOPATHIES - ISOELECTRIC FOCUSING GEL ELECTROPHORESIS OF HEMOGLOBINS DBS, WB SUACMO SUCCINYLACETONE (SUAC) DBS, WB TYRMON TYROSINEMIA MONITORING - SUCCINYLACETONE AND TYROSINE DBS, WB XALD X-LINKED ADRENOLEUKODYSTROPHY - C26:0 LYSOPHOSPHATIDYLCHOLINE DBS, WB POST MORTEM INCLUDES: 17-HYDROXY PROGESTERONE, ACYL CARNITINES, GALACTOSE, THYROID STIMULATING DBS, Vitreous POSTM Fluid, Bile, HORMONE Liver Tissue Blot 3 METABOLIC / NBS DISORDERS - MOLECULAR TEST CODE DESCRIPTION SPECIMEN XALDS ABCD1 XALD GENE SEQUENCING DBS, WB, SV ACAD8S ACAD8 ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY GENE SEQUENCING DBS, WB, SV MCADNA ACADM- MCADD MUTATION PANEL DBS, WB, SV MCADS ACADM-MCADD GENE SEQUENCING DBS, WB, SV SCADS ACADS SCADD GENE SEQUENCING DBS, WB, SV ACADSBS ACADSB 2-METHYLBUTYRYL GLYCINURIA GENE SEQUENCING DBS, WB, SV ACADVLS ACADVL VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY GENE SEQUENCING DBS, WB, SV ACAT1S ACAT1 BETA-KETOTHIOLASE DEFICIENCY GENE SEQUENCING DBS, WB, SV ADKS ADK HYPERMETHIONINEMIA GENE SEQUENCING DBS, WB, SV ARG1S ARG1 ARGININEMIA GENE SEQUENCING DBS, WB, SV ARSBS ARSB MPS VI (MAROTEAUX-LAMY SYNDROME) GENE SEQUENCING DBS, WB, SV ASLS ASL ARGININOSUCCINIC ACIDURIA GENE SEQUENCING DBS, WB, SV ASS1S ASS1 CITRULLINEMIA TYPE I GENE SEQUENCING DBS, WB, SV AUHS AUH 2-METHYLGLUTACONIC ACIDURIA GENE SEQUENCING DBS, WB, SV MSUDNA BCKDHA-MAPLE SYRUP URINE DISEASE MUTATION TESTING DBS, WB, SV MSUDS BCKDHA, BCKDHB, DBT MSUD GENE SEQUENCING DBS, WB, SV BIODNA BTD-BIOTINIDASE DEFICIENCY DBS, WB, SV BIOS BTD BIOTINIDASE GENE SEQUENCING DBS, WB, SV CBSS CBS HOMOCYSTINURIA GENE SEQUENCING DBS, WB, SV IRTEXT CFTR CYSTIC FIBROSIS MUTATION PANEL DBS, WB, SV CFTRS CFTR CYSTIC FIBROSIS GENE SEQUENCING DBS, WB, SV CPT1AS CPT1A CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY GENE SEQUENCING DBS, WB, SV CPT2S CPT2 CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY GENE SEQUENCING DBS, WB, SV 17OHPS CYP21A2 CAH GENE SEQUENCING AND DEL/DUP (MLPA) DBS, WB, SV DMD DMD DUCHENNE MUSCULAR DYSTROPHY DELETION/DUPLICATION DBS, WB, SV DMDS DMD DUCHENNE MUSCULAR DYSTROPHY GENE SEQUENCING DBS, WB, SV GA2S ETFA, ETFB, ETFDH GLUTARIC ACIDEMIA TYPE II GENE SEQUENCING DBS, WB, SV FAHS FAH TYROSINEMIA TYPE I GENE SEQUENCING DBS, WB, SV G6DNA G6PD GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY MUTATION PANEL DBS, WB, SV G6PDS G6PD GENE SEQUENCING DBS, WB, SV GAAS GAA POMPE DISEASE GENE SEQUENCING DBS, WB, SV GALES GALE GALACTOEPIMERASE DEFICIENCY GENE SEQUENCING DBS, WB, SV GALKS GALK GALACTOKINASE DEFICIENCY GENE SEQUENCING DBS, WB, SV GALNSS GALNS MPS IVA (MORQUIO SYNDROME A) GENE SEQUENCING DBS, WB, SV GALDNA GALACTOSEMIA MUTATION PANEL DBS, WB, SV GALTS GALT GALACTOSEMIA GENE SEQUENCING DBS, WB, SV GA1DNA GCDH-GLUTARIC ACIDEMIA TYPE I-MUTATION PANEL DBS, WB, SV GA1S GCDH GA1 GENE SEQUENCING DBS, WB, SV GALCS GALC KRABBE DISEASE GENE SEQUENCING DBS, WB, SV GBAS GBA GAUCHER DISEASE GENE SEQUENCING DBS, WB, SV GLAS GLA FABRY DISEASE GENE SEQUENCING DBS, WB, SV GLB1S GLB1 MPS IVB (GM1 GANGLIOSIDOSIS) GENE SEQUENCING DBS, WB, SV GUSBS GUSB MPS VII GENE SEQUENCING DBS, WB, SV HADHS HADH M/SCHADD GENE SEQUENCING DBS, WB, SV LCHADD HADHA- LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY MUTATION ANALYSIS DBS, WB, SV LCHADS HADHA, HADHB LCHADD GENE SEQUENCING DBS, WB, SV HGBDNA SICKLE CELL & OTHER HEMOGLOBINOPATHIES MUTATION PANEL DBS, WB, SV HLCSS HLCS MULTIPLE CARBOXYLASE DEFICIENCY GENE SEQUENCING DBS, WB, SV HMGCLS HMGCL HMG-COA LYASE DEFICIENCY GENE SEQUENCING DBS, WB, SV HPDS HPD TYROSINEMIA TYPE III GENE SEQUENCING DBS, WB, SV IDUAS IDUA MPS I (HURLER SYNDROME) GENE SEQUENCING DBS, WB, SV
Load more

Recommended publications
  • PDF Document Created by Pdffiller
    Patient: 1234567843314948-COtGx0053 CLIA ID#: 11D2066426 Larry Hung, MD, Laboratory Director GxTM Carrier Screen Testing Report Patient Information Provider Information Specimen Patient Name Haley Papevies Provider Harbin Clinic Women's Accession ID 1234567843314948 Center Cartersville Date of Birth Apr 16, 1998 Sample ID COtGx0053XX Provider ID 1124488556 Age 19 Specimen Type Saliva Physician Vicki Yates Sex female Collection Date Jul 20, 2017 Ethnicity Report Date Aug 5, 2017 Test Ordered CF Patient Results: Negative - No Pathogenic or Likely-Pathogenic Variant(s) Detected Additional Comments This report is based on the analysis of CFTR gene included in the Carrier Screen. No known pathogenic or likely pathogenic variant(s) detected in the coding sequences of CFTR gene. Followup Recommendations Follow up with physicians for updated carrier screen information. The sequencing for CFTR gene was carried out with the other genes included in the Carrier Screen Testing (listed below). The analysis of the other genes in the Carrier Screen could be ordered through your physicians. Genes Tested Targeted regions for “Carrier Screen Testing” includes the exonic regions of the following genes: ABCC8, ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ACTA2, ACTC1, ADA, ADAMTS2, AGXT, AHCY, APC, APOB, ARG1, ASL, ASPA, ASS1, ATP7B, AUH, BCKDHA, BBS2, BCKDHB, BLM, BTD, CBS, COL3A1, COL4A3, CD320, CFTR, CLRN1, CPT1A, CPT2, CYP1B1, CYP21A2, DBT, DHCR7, DHDDS, DLD, DMD, DNAJC19, DSC2, DSG2, DSP, DUOX2, ETFA, ETFB, ETFDH, FAH, FANCC, FBN1,
    [Show full text]
  • Supplement 1 Overview of Dystonia Genes
    Supplement 1 Overview of genes that may cause dystonia in children and adolescents Gene (OMIM) Disease name/phenotype Mode of inheritance 1: (Formerly called) Primary dystonias (DYTs): TOR1A (605204) DYT1: Early-onset generalized AD primary torsion dystonia (PTD) TUBB4A (602662) DYT4: Whispering dystonia AD GCH1 (600225) DYT5: GTP-cyclohydrolase 1 AD deficiency THAP1 (609520) DYT6: Adolescent onset torsion AD dystonia, mixed type PNKD/MR1 (609023) DYT8: Paroxysmal non- AD kinesigenic dyskinesia SLC2A1 (138140) DYT9/18: Paroxysmal choreoathetosis with episodic AD ataxia and spasticity/GLUT1 deficiency syndrome-1 PRRT2 (614386) DYT10: Paroxysmal kinesigenic AD dyskinesia SGCE (604149) DYT11: Myoclonus-dystonia AD ATP1A3 (182350) DYT12: Rapid-onset dystonia AD parkinsonism PRKRA (603424) DYT16: Young-onset dystonia AR parkinsonism ANO3 (610110) DYT24: Primary focal dystonia AD GNAL (139312) DYT25: Primary torsion dystonia AD 2: Inborn errors of metabolism: GCDH (608801) Glutaric aciduria type 1 AR PCCA (232000) Propionic aciduria AR PCCB (232050) Propionic aciduria AR MUT (609058) Methylmalonic aciduria AR MMAA (607481) Cobalamin A deficiency AR MMAB (607568) Cobalamin B deficiency AR MMACHC (609831) Cobalamin C deficiency AR C2orf25 (611935) Cobalamin D deficiency AR MTRR (602568) Cobalamin E deficiency AR LMBRD1 (612625) Cobalamin F deficiency AR MTR (156570) Cobalamin G deficiency AR CBS (613381) Homocysteinuria AR PCBD (126090) Hyperphelaninemia variant D AR TH (191290) Tyrosine hydroxylase deficiency AR SPR (182125) Sepiaterine reductase
    [Show full text]
  • Neurodevelopmental Signatures of Narcotic and Neuropsychiatric Risk Factors in 3D Human-Derived Forebrain Organoids
    Molecular Psychiatry www.nature.com/mp ARTICLE OPEN Neurodevelopmental signatures of narcotic and neuropsychiatric risk factors in 3D human-derived forebrain organoids 1 1 1 1 2 2 3 Michael Notaras , Aiman Lodhi , Estibaliz✉ Barrio-Alonso , Careen Foord , Tori Rodrick , Drew Jones , Haoyun Fang , David Greening 3,4 and Dilek Colak 1,5 © The Author(s) 2021 It is widely accepted that narcotic use during pregnancy and specific environmental factors (e.g., maternal immune activation and chronic stress) may increase risk of neuropsychiatric illness in offspring. However, little progress has been made in defining human- specific in utero neurodevelopmental pathology due to ethical and technical challenges associated with accessing human prenatal brain tissue. Here we utilized human induced pluripotent stem cells (hiPSCs) to generate reproducible organoids that recapitulate dorsal forebrain development including early corticogenesis. We systemically exposed organoid samples to chemically defined “enviromimetic” compounds to examine the developmental effects of various narcotic and neuropsychiatric-related risk factors within tissue of human origin. In tandem experiments conducted in parallel, we modeled exposure to opiates (μ-opioid agonist endomorphin), cannabinoids (WIN 55,212-2), alcohol (ethanol), smoking (nicotine), chronic stress (human cortisol), and maternal immune activation (human Interleukin-17a; IL17a). Human-derived dorsal forebrain organoids were consequently analyzed via an array of unbiased and high-throughput analytical approaches, including state-of-the-art TMT-16plex liquid chromatography/mass- spectrometry (LC/MS) proteomics, hybrid MS metabolomics, and flow cytometry panels to determine cell-cycle dynamics and rates of cell death. This pipeline subsequently revealed both common and unique proteome, reactome, and metabolome alterations as a consequence of enviromimetic modeling of narcotic use and neuropsychiatric-related risk factors in tissue of human origin.
    [Show full text]
  • Abstracts from the 9Th Biennial Scientific Meeting of The
    International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):15 DOI 10.1186/s13633-017-0054-x MEETING ABSTRACTS Open Access Abstracts from the 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES) and the 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE) Tokyo, Japan. 17-20 November 2016 Published: 28 Dec 2017 PS1 Heritable forms of primary bone fragility in children typically lead to Fat fate and disease - from science to global policy a clinical diagnosis of either osteogenesis imperfecta (OI) or juvenile Peter Gluckman osteoporosis (JO). OI is usually caused by dominant mutations affect- Office of Chief Science Advsor to the Prime Minister ing one of the two genes that code for two collagen type I, but a re- International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):PS1 cessive form of OI is present in 5-10% of individuals with a clinical diagnosis of OI. Most of the involved genes code for proteins that Attempts to deal with the obesity epidemic based solely on adult be- play a role in the processing of collagen type I protein (BMP1, havioural change have been rather disappointing. Indeed the evidence CREB3L1, CRTAP, LEPRE1, P4HB, PPIB, FKBP10, PLOD2, SERPINF1, that biological, developmental and contextual factors are operating SERPINH1, SEC24D, SPARC, from the earliest stages in development and indeed across generations TMEM38B), or interfere with osteoblast function (SP7, WNT1). Specific is compelling. The marked individual differences in the sensitivity to the phenotypes are caused by mutations in SERPINF1 (recessive OI type obesogenic environment need to be understood at both the individual VI), P4HB (Cole-Carpenter syndrome) and SEC24D (‘Cole-Carpenter and population level.
    [Show full text]
  • Primate Specific Retrotransposons, Svas, in the Evolution of Networks That Alter Brain Function
    Title: Primate specific retrotransposons, SVAs, in the evolution of networks that alter brain function. Olga Vasieva1*, Sultan Cetiner1, Abigail Savage2, Gerald G. Schumann3, Vivien J Bubb2, John P Quinn2*, 1 Institute of Integrative Biology, University of Liverpool, Liverpool, L69 7ZB, U.K 2 Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, The University of Liverpool, Liverpool L69 3BX, UK 3 Division of Medical Biotechnology, Paul-Ehrlich-Institut, Langen, D-63225 Germany *. Corresponding author Olga Vasieva: Institute of Integrative Biology, Department of Comparative genomics, University of Liverpool, Liverpool, L69 7ZB, [email protected] ; Tel: (+44) 151 795 4456; FAX:(+44) 151 795 4406 John Quinn: Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, The University of Liverpool, Liverpool L69 3BX, UK, [email protected]; Tel: (+44) 151 794 5498. Key words: SVA, trans-mobilisation, behaviour, brain, evolution, psychiatric disorders 1 Abstract The hominid-specific non-LTR retrotransposon termed SINE–VNTR–Alu (SVA) is the youngest of the transposable elements in the human genome. The propagation of the most ancient SVA type A took place about 13.5 Myrs ago, and the youngest SVA types appeared in the human genome after the chimpanzee divergence. Functional enrichment analysis of genes associated with SVA insertions demonstrated their strong link to multiple ontological categories attributed to brain function and the disorders. SVA types that expanded their presence in the human genome at different stages of hominoid life history were also associated with progressively evolving behavioural features that indicated a potential impact of SVA propagation on a cognitive ability of a modern human.
    [Show full text]
  • Oral Presentations
    Journal of Inherited Metabolic Disease (2018) 41 (Suppl 1):S37–S219 https://doi.org/10.1007/s10545-018-0233-9 ABSTRACTS Oral Presentations PARALLEL SESSION 1A: Clycosylation and cardohydrate disorders O-002 Link between glycemia and hyperlipidemia in Glycogen Storage O-001 Disease type Ia Hoogerland J A1, Hijmans B S1, Peeks F1, Kooijman S3, 4, Bos T2, Fertility in classical galactosaemia, N-glycan, hormonal and inflam- Bleeker A1, Van Dijk T H2, Wolters H1, Havinga R1,PronkACM3, 4, matory gene expression interactions Rensen P C N3, 4,MithieuxG5, 6, Rajas F5, 6, Kuipers F1, 2,DerksTGJ1, Reijngoud D1,OosterveerMH1 Colhoun H O1,Rubio-GozalboME2,BoschAM3, Knerr I4,DawsonC5, Brady J J6,GalliganM8,StepienKM9, O'Flaherty R O7,MossC10, 1Dep Pediatrics, CLDM, Univ of Groningen, Groningen, Barker P11, Fitzgibbon M C6, Doran P8,TreacyEP1, 4, 9 Netherlands, 2Lab Med, CLDM, Univ of Groningen, Groningen, Netherlands, 3Dep of Med, Div of Endocrinology, LUMC, Leiden, 1Dept Paediatrics, Trinity College Dublin, Dublin, Ireland, 2Dept Paeds and Netherlands, 4Einthoven Lab Exp Vasc Med, LUMC, Leiden, Clin Genetics, UMC, Maastricht, Netherlands, 3Dept Paediatrics, AMC, Netherlands, 5Institut Nat Sante et Recherche Med, Lyon, Amsterdam, Netherlands, 4NCIMD, TSCUH, Dublin, Ireland, 5Dept France, 6Univ Lyon 1, Villeurbanne, France Endocrinology, NHS Foundation Trust, Birmingham, United Kingdom, 6Dept Clin Biochem, MMUH, Dublin, Ireland, 7NIBRT Glycoscience, Background: Glycogen Storage Disease type Ia (GSD Ia) is an NIBRT, Dublin, Ireland, 8UCDCRC,UCD,Dublin,Ireland,9NCIMD, inborn error of glucose metabolism characterized by fasting hypo- MMUH, Dublin, Ireland, 10Conway Institute, UCD, Dublin, Ireland, glycemia, hyperlipidemia and fatty liver disease. We have previ- 11CBAL, NHS Foundation, Cambridge, United Kingdom ously reported considerable heterogeneity in circulating triglycer- ide levels between individual GSD Ia patients, a phenomenon that Background: Classical Galactosaemia (CG) is caused by deficiency of is poorly understood.
    [Show full text]
  • Genetic Features of Myelodysplastic Syndrome and Aplastic Anemia in Pediatric and Young Adult Patients
    Bone Marrow Failure SUPPLEMENTARY APPENDIX Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients Siobán B. Keel, 1* Angela Scott, 2,3,4 * Marilyn Sanchez-Bonilla, 5 Phoenix A. Ho, 2,3,4 Suleyman Gulsuner, 6 Colin C. Pritchard, 7 Janis L. Abkowitz, 1 Mary-Claire King, 6 Tom Walsh, 6** and Akiko Shimamura 5** 1Department of Medicine, Division of Hematology, University of Washington, Seattle, WA; 2Clinical Research Division, Fred Hutchinson Can - cer Research Center, Seattle, WA; 3Department of Pediatric Hematology/Oncology, Seattle Children’s Hospital, WA; 4Department of Pedi - atrics, University of Washington, Seattle, WA; 5Boston Children’s Hospital, Dana Farber Cancer Institute, and Harvard Medical School, MA; 6Department of Medicine and Department of Genome Sciences, University of Washington, Seattle, WA; and 7Department of Laboratory Medicine, University of Washington, Seattle, WA, USA *SBK and ASc contributed equally to this work **TW and ASh are co-senior authors ©2016 Ferrata Storti Foundation. This is an open-access paper. doi:10.3324/haematol. 2016.149476 Received: May 16, 2016. Accepted: July 13, 2016. Pre-published: July 14, 2016. Correspondence: [email protected] or [email protected] Supplementary materials Supplementary methods Retrospective chart review Patient data were collected from medical records by two investigators blinded to the results of genetic testing. The following information was collected: date of birth, transplant, death, and last follow-up,
    [Show full text]
  • Understanding Brassicaceae Evolution Through Ancestral
    Understanding Brassicaceae evolution through ancestral genome reconstruction Florent Murat, Alexandra Louis, Florian Maumus, Alix Armero Villanueva, Richard Cooke, Hadi Quesneville, Hugues Roest Crollius, Jerome Salse To cite this version: Florent Murat, Alexandra Louis, Florian Maumus, Alix Armero Villanueva, Richard Cooke, et al.. Understanding Brassicaceae evolution through ancestral genome reconstruction. Genome Biology, BioMed Central, 2015, 16 (262), 10.1186/s13059-015-0814-y. hal-01281832 HAL Id: hal-01281832 https://hal.archives-ouvertes.fr/hal-01281832 Submitted on 2 Mar 2016 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Murat et al. Genome Biology (2015) 16:262 DOI 10.1186/s13059-015-0814-y RESEARCH Open Access Understanding Brassicaceae evolution through ancestral genome reconstruction Florent Murat1†, Alexandra Louis2,3,4†, Florian Maumus5†, Alix Armero1, Richard Cooke6, Hadi Quesneville5, Hugues Roest Crollius2,3,4 and Jerome Salse1* Abstract Background: Brassicaceae is a family of green plants of high scientific and economic interest, including thale cress (Arabidopsis thaliana), cruciferous vegetables (cabbages) and rapeseed. Results: We reconstruct an evolutionary framework of Brassicaceae composed of high-resolution ancestral karyotypes using the genomes of modern A. thaliana, Arabidopsis lyrata, Capsella rubella, Brassica rapa and Thellungiella parvula.
    [Show full text]
  • 2021 Code Changes Reference Guide
    Boston University Medical Group 2021 CPT Code Changes Reference Guide Page 1 of 51 Background Current Procedural Terminology (CPT) was created by the American Medical Association (AMA) in 1966. It is designed to be a means of effective and dependable communication among physicians, patients, and third-party payers. CPT provides a uniform coding scheme that accurately describes medical, surgical, and diagnostic services. CPT is used for public and private reimbursement systems; development of guidelines for medical care review; as a basis for local, regional, and national utilization comparisons; and medical education and research. CPT Category I codes describe procedures and services that are consistent with contemporary medical practice. Category I codes are five-digit numeric codes. CPT Category II codes facilitate data collection for certain services and test results that contribute to positive health outcomes and quality patient care. These codes are optional and used for performance management. They are alphanumeric five-digit codes with the alpha character F in the last position. CPT Category III codes represent emerging technologies. They are alphanumeric five-digit codes with the alpha character T in the last position. The CPT Editorial Panel, appointed by the AMA Board of Trustees, is responsible for maintaining and updating the CPT code set. Purpose The AMA makes annual updates to the CPT code set, effective January 1. These updates include deleted codes, revised codes, and new codes. It’s important for providers to understand the code changes and the impact those changes will have to systems, workflow, reimbursement, and RVUs. This document is meant to assist you with this by providing a summary of the changes; a detailed breakdown of this year’s CPT changes by specialty, and HCPCS Updates for your reference.
    [Show full text]
  • Molecular Diagnostic Requisition
    BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 MOLECULAR DIAGNOSTIC REQUISITION PATIENT INFORMATION SAMPLE INFORMATION NAME: DATE OF COLLECTION: / / LAST NAME FIRST NAME MI MM DD YY HOSPITAL#: ACCESSION#: DATE OF BIRTH: / / GENDER (Please select one): FEMALE MALE MM DD YY SAMPLE TYPE (Please select one): ETHNIC BACKGROUND (Select all that apply): UNKNOWN BLOOD AFRICAN AMERICAN CORD BLOOD ASIAN SKELETAL MUSCLE ASHKENAZIC JEWISH MUSCLE EUROPEAN CAUCASIAN -OR- DNA (Specify Source): HISPANIC NATIVE AMERICAN INDIAN PLACE PATIENT STICKER HERE OTHER JEWISH OTHER (Specify): OTHER (Please specify): REPORTING INFORMATION ADDITIONAL PROFESSIONAL REPORT RECIPIENTS PHYSICIAN: NAME: INSTITUTION: PHONE: FAX: PHONE: FAX: NAME: EMAIL (INTERNATIONAL CLIENT REQUIREMENT): PHONE: FAX: INDICATION FOR STUDY SYMPTOMATIC (Summarize below.): *FAMILIAL MUTATION/VARIANT ANALYSIS: COMPLETE ALL FIELDS BELOW AND ATTACH THE PROBAND'S REPORT. GENE NAME: ASYMPTOMATIC/POSITIVE FAMILY HISTORY: (ATTACH FAMILY HISTORY) MUTATION/UNCLASSIFIED VARIANT: RELATIONSHIP TO PROBAND: THIS INDIVIDUAL IS CURRENTLY: SYMPTOMATIC ASYMPTOMATIC *If family mutation is known, complete the FAMILIAL MUTATION/ VARIANT ANALYSIS section. NAME OF PROBAND: ASYMPTOMATIC/POPULATION SCREENING RELATIONSHIP TO PROBAND: OTHER (Specify clinical findings below): BMGL LAB#: A COPY OF ORIGINAL RESULTS ATTACHED IF PROBAND TESTING WAS PERFORMED AT ANOTHER LAB, CALL TO DISCUSS PRIOR TO SENDING SAMPLE. A POSITIVE CONTROL MAY BE REQUIRED IN SOME CASES. REQUIRED: NEW YORK STATE PHYSICIAN SIGNATURE OF CONSENT I certify that the patient specified above and/or their legal guardian has been informed of the benefits, risks, and limitations of the laboratory test(s) requested.
    [Show full text]
  • Adenylate Kinase 2 / AK2 (1-239, His-Tag) Human Protein Product Data
    OriGene Technologies, Inc. 9620 Medical Center Drive, Ste 200 Rockville, MD 20850, US Phone: +1-888-267-4436 [email protected] EU: [email protected] CN: [email protected] Product datasheet for AR09002PU-N Adenylate kinase 2 / AK2 (1-239, His-tag) Human Protein Product data: Product Type: Recombinant Proteins Description: Adenylate kinase 2 / AK2 (1-239, His-tag) human recombinant protein, 0.5 mg Species: Human Expression Host: E. coli Tag: His-tag Predicted MW: 28.6 kDa Concentration: lot specific Purity: >95% by SDS-PAGE Buffer: Presentation State: Purified State: Liquid purified protein Buffer System: 20 mM Tris pH 7.5, 5 mM DTT, 20% glycerol Bioactivity: Specific: > 1.5 units/ml One unit will convert 2.0 umoles of ADP to ATP + AMP per minute at pH 7.5 at 25°C. Endotoxin: < 1.0 EU per 1 µg of protein (determined by LAL method) Preparation: Liquid purified protein Applications: Protocol: Activity Assay 1. Prepare a 1.4 ml assay buffer (Assay buffer: 58 mM glycylglycine, 2.0 mM adenosine 5'- diphosphate, 2.3 mM beta-nicotinamide adenine dinucleotide phosphate, 10 mM magnesium chloride, 10 mM glucose, 2 unit hexokinase, 1 unit glucose-6-phosphate dehydrogenase, 0.003% (w/v) BSA, pH 7.5.) - G-6-PDH/Hex (sigma,Cat.No. H-8629) 2. Add 50 ul of recombinant Adenylate kinase isoenzyme 2 protein with various concentrations (0.5 ug, 1 ug) and read the increase in A340nm for 5 minutes. Protein Description: Recombinant human AK2 protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.
    [Show full text]
  • New Tests 2 Test Updates 4 CPT Code Updates 11 Deleted Tests 11 Diagnostics Update Volume XXI, No
    Volume XXI, No. 6 JUNE 2021 MONTHLY TEST UPDATES Diagnostics Update New Tests 2 Test Updates 4 CPT Code Updates 11 Deleted Tests 11 Diagnostics Update Volume XXI, No. 6 | JUNE 2021 New Tests Use Anti-DFS70 antibodies may help identify individuals who do not have an Anti-Carbamylated Protein (CarP) Antibody 520311 ANA-associated Autoimmune Rheumatic Disease (AARD) especially in the absence of significant clinical findings.1 Anti-DFS70 Ab, especially when positive CPT 83516 in isolation (i.e. in the absence of AARD-associated autoantibodies), may Synonyms Anti-CarP antigen antibody; RA marker prevent unnecessary referrals and examinations of ANA-positive individuals.2 Special Instructions This test has not been approved for NY state clients. Limitations This test should be used with clinical findings and other Specimen Serum autoimmune testing; it cannot be used alone to rule out autoimmune disease. Volume 1 mL This test was developed and its performance characteristics determined Minimum Volume 0.5 mL by Labcorp. It has not been cleared or approved by the Food and Drug Container Red-top tube; serum from red-top tube; serum from a gel tube; or Administration. serum gel tube Methodology Enzyme-linked immunosorbent assay (ELISA) Collection Separate serum from cells within one hour of collection. Transfer to a Additional Information Anti-DFS70 antibodies target the dense fine speckled plastic transport tube before shipping. protein of 70 kDa which is identical to Lens Epithelium-Derived Growth Factor Storage Instructions Refrigerate or freeze. or transcription co-activator p75 (LEDGFp75). They are detectable in 2% to 22% Stability of healthy individuals and in less than 1% of patients with AARD are of unknown Temperature Period clinical significance.
    [Show full text]