Strand Neuromuscular Disorders Test: Genes & Test Selection
|
|
- Aldous Scott
- 5 years ago
- Views:
Transcription
1
2
3 1
4 Strand Neuromuscular Disorders Test: Genes & Test Selection 2
5 Can the Strand Neuromuscular Disorders Test Be Offered for Prenatal Diagnosis? 3
6 Strand Neuromuscular Disorders Test: Genes & Test Selection
7 Muscular dystrophies 9 8
8 Sample Requirements (any one of the following) Saliva in collection kits provided by Strand Blood in EDTA (purple top tube) DNA isolated from blood Buccal swab in collection Kits provided by Strand Dry blood spot Kits provided by Strand Turnaround Time (TAT) -6 weeks from receipt of sample in the lab 6
9 7
10 Appendix Table 8 : List of disorders covered in Strand Neuromuscular Disorders Test Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. 3-methylglutaconic aciduria type 1 6,XY gonadal dysgenesis-motor and sensory neuropathy syndrome A Abetalipoproteinaemia Aceruloplasminaemia Actin-accumulation myopathy Adrenoleukodystrophy, Spastic paraplegia Adrenomyeloneuropathy Adult polyglucosan body disease Aicardi-Goutieres syndrome Spastic paraplegia Allan-Herndon-Dudley syndrome Spastic paraplegia Alpha-dystroglycanopathy Alternating hemiplegia of childhood, Alzheimer disease Alzheimer disease, type 3, with spastic paraparesis and unusual plaques Spastic paraplegia Amyoloidosis Amyotrophic lateral sclerosis with or without frontotemporal dementia Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis with parkinsonism Amyotrophic lateral sclerosis Andermann syndrome Angelman syndrome Arts syndrome associated neuropathy neuropathy spectrum with neuropathy with oculomotor apraxia with oculomotor apraxia and hypoalbuminemia with oculomotor apraxia type 2 -telangiectasia -Telangiectasia with early onset dystonia Auditory neuropathy 8
11 Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Autosomal recessive mutilating sensory neuropathy with spastic paraplegia Spastic paraplegia Axonal neuropathy B Balkan endemic neuropathy Barth syndrome Becker muscular dystrophy Bethlem myopathy Bilateral striopallidodentate calcinosis Blepharospasm Boucher-Neuhauser syndrome Brody myopathy C CAMRQ syndrome CAP myopathy CAPOS syndrome Cardiomyopathy and late-onset polyneuropathy of lower limbs Carpal tunnel syndrome CD9-mediated hemolytic anemia with immune-mediated polyneuropathy Central core disease Centronuclear myopathy Cerebellar ataxia Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Cerebrotendinous xanthomatosis Channelopathy-associated insensitivity to pain Charcot-Marie-Tooth disease Choreadystonic movement disorder and periventricular heterotopia Choreoacanthocytosis Choreoathetosis, hypothyroidism, and neonatal respiratory distress (brain-lung-thyroid syndrome) Chronic non-paroxysmal neuropathic pain Congenital muscular dystrophy with intellectual disability and severe epilepsy Cognitive impairment with or without cerebellar ataxia Collagen Type VI-Related Disorders,,,, 9
12 Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Complex dystonia Complicated hereditary spastic paraplegia Congenital disorders of glycosylation, Congenital hypomyelinating neuropathy Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Spastic paraplegia Congenital insensitivity to pain Congenital muscular dystrophy Congenital myasthenic syndrome Congenital myopathy with excess of muscle spindles Costello syndrome Cowchock syndrome D Danon disease, Dejerine-Sottas disease, Demyelinating neuropathy Dilated cardiomyopathy, Dilated cardiomyopathy with ataxia Distal hereditary motor neuronopathy Distal myopathy Distal spinal muscular atrophy Dopamine-responsive dystonia Dravet syndrome Duchenne muscular dystrophy Dyskinesia with facial myokymia Dystonic encephalopathy without hyperphenylalaninemia Dystroglycanopathy Dystrophinopathy E Early onset chorea and dystonia,,,, 10
13 Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Emery-Dreifuss muscular dystrophy, Encephalomyopathic with or without methylmalonic aciduria Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa with muscular dystrophy and myasthenic syndrome Epilepsy associated ataxia Epileptic encephalopathy, Episodic ataxia Erythermalgia F Fabry disease Facioscapulohumeral muscular dystrophy Familial hypertrophic cardiomyopathy Familial partial lipodystrophy Fatty acid hydroxylase-associated neurodegeneration Focal and generalized dystonia Fragile X-associated tremor/ataxia syndrome Friedreich ataxia Frontotemporal lobar degeneration Amyotrophic lateral sclerosis G Giant axonal neuropathy Gillespie syndrome Glutaric aciduria Glycogen storage diseases, H Hemiplegic migraine Hereditary motor and sensory neuropathy Hereditary myopathy with early respiratory failure Hereditary myopathy with lactic acidosis Hereditary neuralgic amyotrophy Hereditary spastic paraplegia Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis Spastic paraplegia,,, 11
14 Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. HyperCKemia and muscular dystrophy Hyperkalemic periodic paralysis Hypermanganesemia with dystonia, polycythemia, and cirrhosis Hypoparathyroidism, infanitle-onset and peripheral polyneuropathy I Immune dysfunction with T-cell inactivation due to calcium entry defect Inclusion body myopathy Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Inherited congenital spastic tetraplegia Intellectual disability, dystonia and sensorineural deafness Intranuclear rod myopathy J Juvenile primary lateral sclerosis Juvenile-onset dystonia K King-Denborough syndrome Kufor-Rakeb syndrome Kufs disease L Laurence-Moon syndrome Learning disability with progressive ataxia, spasticity and dystonia Leigh syndrome Leukodystrophy with spastic paraparesis & dystonia Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Leukoencephalopathy with dystonia and motor neuropathy Leukoencephalopathy-dystonia-motor neuropathy syndrome Liang distal myopathy Limb-girdle muscular dystrophy Lissencephaly type II M Marinesco-Sjogren syndrome McLeod syndrome with or without chronic granulomatous disease MEDNIK syndrome Amyotrophic lateral sclerosis, Spastic paraplegia Amyotrophic lateral sclerosis,,,,,, 12
15 Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Mental retardation, X-linked, syndromic, Claes-Jensen type Metachromatic leukodystrophy Mitochondrial cardiomyopathy, Leigh syndrome, neuropathy and optic atrophy Mitochondrial disorders associated ataxia Mitochondrial DNA depletion syndrome Mitochondrial DNA-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) Mitochondrial membrane protein-associated neurodegeneration Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy, lactic acidosis and sideroblastic anemia Mitochondrial recessive ataxia syndrome Miyoshi myopathy Mohr-Tranebjaerg syndrome Motor and sensory axonal neuropathy plus microcephaly Motor and sensory neuropathy and corpus callosum agenesis Motor and sensory neuropathy with pyramidal signs Motor axonal neuropathy Motor neuron disease, lower Multiminicore disease Multiple system atrophy Muscle-eye-brain disease Muscular dystrophy & mental retardation Muscular dystrophy and peripheral neuropathy Muscular dystrophy with epidermolysis bullosa Muscular dystrophy without cardiomyopathy or brain involvement Muscular dystrophy, Becker with cognitive impairment Muscular dystrophy, Becker with dilated cardiomyopathy & progressive heart failure Muscular dystrophy, congenital, megaconial type Muscular dystrophy-dystroglycanopathy Myoclonic epilepsy myopathy sensory ataxia Spastic paraplegia,,,, Amyotrophic lateral sclerosis,, 13
16 Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Myoclonus dystonia Myopathy, congenital, Compton-North Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Myosclerosis myopathy Myosin storage myopathy,, Myotilinopathy N NEB-related core-rod myopathy Nemaline myopathy Neonatal adrenoleukodystrophy Neurodegeneration with brain iron accumulation Neuroferritinopathy Neuronal ceroid lipofuscinoses Neuropathy and bilateral striatal necrosis Neutral lipid storage disease with myopathy Niemann-Pick disease O Oculopharyngeal muscular dystrophy Oliver-McFarlane syndrome Opsoclonus-myoclonus ataxia-like syndrome Optic atrophy plus syndrome P Pain, dysautonomia and acromesomelia Pantothenate kinase-associated neurodegeneration Paramyotonia congenital Parkinson disease Parkinsonism associated dystonia Paroxysmal exertion-induced dyskinesia Paroxysmal extreme pain disorder Paroxysmal kinesigenic dyskinesia Paroxysmal nonkinesigenic dyskinesia Partial lipodystrophy Periaxin-related neuropathy,,,,,,,,, 1
17 Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease Peripheral neuropathy Periventricular nodular heterotopia with dystonia Peroxisome biogenesis disorder Perrault syndrome with neurologic features Pol III-related leukodystrophy Polyneuropathy Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts Posterior column ataxia & retinitis pigmentosa PRICKLE1-related progressive myoclonus epilepsy with ataxia Primary torsion dystonia Progressive external ophthalmoplegia Progressive myoclonus epilepsy with ataxia Progressive polyneuropathy Prominent sensorimotor neuropathy Proximal myopathy and ophthalmoplegia R Rapid-onset dystonia parkinsonism Refsum disease Rett syndrome Rigid spine muscular dystrophy Roussy-Levy syndrome S Salih myopathy Scapuloperoneal syndrome, myopathic type Segawa syndrome Sensory and autonomic neuropathy Sensory neuropathy with dementia and hearing loss SESAME syndrome Silver spastic paraplegia syndrome Skeletal and cardiac muscular dystrophy Skeletal dysplasia and peripheral neuropathy Slowed nerve conduction velocity Spastic ataxia Spastic paraplegia,,,,,,,,,,, 1
18 Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Spheroid body myopathy, Spinal muscular atrophy with respiratory distress Spinal muscular atrophy, late-onset, Finkel type Amyotrophic lateral sclerosis Spinocerebellar ataxia Spinocerebellar ataxia with axonal neuropathy T Thalidomide-induced peripheral neuropathy Thiamine metabolism dysfunction syndrome Tibial muscular dystrophy, Triple A syndrome Tubular aggregate myopathy U Ullrich congenital muscular dystrophy, W Walker-Warburg syndrome Whispering dysphonia Wilson disease Wolfram syndrome Woodhouse-Sakati syndrome X X-linked distal hereditary motor neuropathy X-linked dominant scapuloperoneal myopathy, X-linked infantile spinal muscular atrophy X-linked myopathy with postural muscle atrophy X-linked myotubular myopathy X-linked reducing body myopathy X-linked sideroblastic anemia and ataxia X-linked spinocerebellar ataxia,,,, 16
19
20 Strand Center for Genomics & Personalized Medicine is accredited by CAP & NABL # Certificate No. M-089
panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders
NGS tests panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders UKGTN website lists 13 laboratories offering a total of 56 panel test UKGTN listed panel
More informationIndex. Phys Med Rehabil Clin N Am 14 (2003) Note: Page numbers of article titles are in boldface type.
Phys Med Rehabil Clin N Am 14 (2003) 445 453 Index Note: Page numbers of article titles are in boldface type. A Acid maltase deficiencies, electrodiagnosis of, 420, 422 Acquired peripheral neuropathy,
More informationLumbosacral plexus lesion Lumbosacral plexus disorders G54.1 Neuralgic amyotrophy Neuralgic amyotrophy G
ICD-9-CM and ICD-10-CM NEUROMUSCULAR DIAGNOSIS CODES Focal Neuropathy ICD-9-CM ICD-10-CM Mononeuropathy G56.00 Carpal tunnel syndrome 354.00 Other median nerve lesion 354.10 Lesion of ulnar nerve 354.20
More informationTable of Contents. Preface... xi. Part I: Introduction to Movement Disorders
Table of Contents Visit www.healthreferenceseries.com to view A Contents Guide to the Health Reference Series, a listing of more than 14,000 topics and the volumes in which they are covered. Preface...
More informationOur partners worldwide. CENTOGENE Report: Diagnosed cases of rare diseases at CENTOGENE. January 2012 to June 2016.
CENTOGENE Report: cases of rare diseases at CENTOGENE January 202 to June 206 Elucidating the basis for the link between the clinical phenotype and genotype correlation, and the factors contributing to
More informationAII-type: Select the most appropriate answer
AII-type: Select the most appropriate answer ( )1. Choose one best answer for the following pathologic pictures. A. choroid cyst B. choroid papilloma C. pontine glioma D. ependymoma E. metastatic tumor
More informationEvaluation of the Hypotonic Infant and Child
Evaluation of the Hypotonic Infant and Child Basil T. Darras, M.D. Neuromuscular Program Boston Children s Hospital Harvard Medical School Boston, MA, USA Classification and General Clinical Evaluation
More informationAll diseases on Foresight
All diseases on Foresight Disease 11-Beta-Hydroxylase- Deficient Congenital Adrenal Hyperplasia 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 3-Hydroxy-3-Methylglutaryl- CoA Lyase Deficiency
More informationMNGenome Sequencing Test Request Form
MNGenome Sequencing Test Request Form Whole Whole Genome Exome Sequencing Note: Clinical Information and Consent Form are required for MNGenome Orders. *Please note if samples are shipping separately as
More informationMovement disorders in childhood: assessment and diagnosis. Lucinda Carr
Movement disorders in childhood: assessment and diagnosis Lucinda Carr Movement disorders in childhood: Assessment Classification Causes Diagnosis Presentation of movement disorders in childhood: Concerns
More informationFRAMBU. Resource Centre for Rare Disorders
FRAMBU Resource Centre for Rare Disorders Frambu Resource Centre for Rare Disorders is one of nine centres working with rare disorders in Norway. All nine centres are part of the Norwegian National Advisory
More informationNeonatal Hypotonia Guideline Prepared by Dan Birnbaum MD August 27, 2012
Neonatal Hypotonia Guideline Prepared by Dan Birnbaum MD August 27, 2012 Hypotonia: reduced tension or resistance to range of motion Localization can be central (brain), peripheral (spinal cord, nerve,
More informationBROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING.
BROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING. The Inheritest SM Carrier Screen provides relevant genetic screening for many inherited diseases found throughout the pan-ethnic US population.
More informationCHRONIC MYELOGENOUS LEUKEMIA
CHRONIC MYELOGENOUS LEUKEMIA SHUFFLING THE GENETIC DECK IN CML 9 9 (q+) 22 Ph (22q-) bcr bcr-abl abl Fusion protein causes cancer GLEEVEC AND BCR-ABL FUSION PROTEIN GENETIC MEDICINE A. Genetic diseases
More informationGenetic Testing for Neurologic Disorders
Genetic Testing for Neurologic Disorders MP9497 Covered Service: Prior Authorization Required: Additional Information: Yes when meets criteria below Yes as shown below Pre- and post-test genetic counseling
More informationNeurodegenerative disorders: an approach to investigation. Robert Robinson Practical Paediatric Neurology Study Days April 2018
Neurodegenerative disorders: an approach to investigation Robert Robinson Practical Paediatric Neurology Study Days April 2018 Aims An approach to investigating and diagnosing young children with progressive
More informationMNG Exome Sequencing Test Request Form
Whole Exome Sequencing MNG Exome Sequencing Test Request Form Note: Clinical Information and Consent Form are required for MNG Exome Orders. IMPORTANT: Please note if any additional samples will be shipped
More informationREQUISITION FORM NOTE: ALL FORMS MUST BE FILLED OUT COMPLETELY FOR SAMPLE TO BE PROCESSED. Last First Last First
#: DEPARTMENT OF NEUROLOGY COLUMBIA COLLEGE OF PHYSICIANS & SURGEONS Room 4-420 630 West 168th Street, New York, NY 10032 Telephone #: 212-305-3947 Fax#: 212-305-3986 REQUISITION FORM NOTE: ALL FORMS MUST
More informationReferring Physician Information Name: (Last, First, Middle):
Page 1 of 5 Patient Information Clinical Indication: Patient Name: (Last, First, Middle): DOB (M/D/Y): Sex: M F Guardian Name (for minor patients only): Address: City: State: ZIP: Phone: Ethnic Background
More informationGenetic diagnosis of limb girdle muscular dystrophy type 2A, A Case Report
Genetic diagnosis of limb girdle muscular dystrophy type 2A, A Case Report Roshanak Jazayeri, MD, PhD Assistant Professor of Medical Genetics Faculty of Medicine, Alborz University of Medical Sciences
More information1/28/2019. OSF HealthCare INI Care Center Team. Neuromuscular Disease: Muscular Dystrophy. OSF HealthCare INI Care Center Team: Who are we?
Neuromuscular Disease: Muscular Dystrophy Muscular Dystrophy Association (MDA) and OSF HealthCare Illinois Neurological Institute (INI) Care Center Team The Neuromuscular clinic is a designated MDA Care
More informationDraw a pedigree during the neurological consultation
38 PRACTICAL NEUROLOGY HOW TO DO IT Draw a pedigree during the neurological consultation Saif S.M. Razvi* and Ian Bone *Specialist Registrar and Professor of Neurology, Division of Clinical Neurosciences,
More informationWhen to think about metabolic disorders in adulthood? Wouter Meersseman
When to think about metabolic disorders in adulthood? Wouter Meersseman General Internal Medicine Adult Metabolic Clinic Wouter Meersseman, Leuven, Belgium Man, 25 year-old Normal development From 15 months
More informationClinical Aspects of Peripheral Nerve and Muscle Disease. Roy Weller Clinical Neurosciences University of Southampton School of Medicine
Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton School of Medicine Normal Nerves 1. Anterior Horn Cell 2. Dorsal root ganglion cell 3.
More informationSELECTIVE VULNERABILITY (HYPOXIA AND HYPOGLYCEMIA)
DEFICIENCY OF METABOLITE -HYPOXIA AND HYPOGLYCEMIA -HYPOVITAMINOSIS SELECTIVE VULNERABILITY (HYPOXIA AND HYPOGLYCEMIA) -SPECIFIC CELL TYPE NEURONS>OLIGODENDROCYTES>ASTROCYTES -SPECIFIC BRAIN REGION PYRAMIDAL
More informationMovement Disorders. Psychology 372 Physiological Psychology. Background. Myasthenia Gravis. Many Types
Background Movement Disorders Psychology 372 Physiological Psychology Steven E. Meier, Ph.D. Listen to the audio lecture while viewing these slides Early Studies Found some patients with progressive weakness
More informationGenetics of Hereditary Spastic Paraplegia Dr. Arianna Tucci
Genetics of Hereditary Spastic Paraplegia 1 Clinical Research Fellow Institute of Neurology University College London Hereditary spastic paraplegia: definition Clinical designation for neurologic syndromes
More informationAn approach to movement disorders. Kailash Bhatia, DM, FRCP Professor of Clinical Neurology Institute of Neurology Queen Square, London
An approach to movement disorders Kailash Bhatia, DM, FRCP Professor of Clinical Neurology Institute of Neurology Queen Square, London Neurology Diagnosis Two main questions: What parts of the nervous
More informationNeonatal Hypotonia. Encephalopathy acute No encephalopathy. Neurology Chapter of IAP
The floppy infant assumes a frog legged position. On ventral suspension, the baby can not maintain limb posture against gravity and assumes the position of a rag doll. Encephalopathy acute No encephalopathy
More informationShake It Off: Recognizing & Treating Movement Disorders
Ooi Phaik Yee Annual scientific meeting College of Medicine, Academy of Medicine of Malaysia 12 th November 2017 Shake It Off: Recognizing & Treating Movement Disorders MOVEMENT DISORDER A group of symptoms
More informationInitial symptom or syndrome: (1) FOCAL WEAKNESS OR NUMBNESS
View the referenced DVD patient cases, especially if few hospital or clinic patients are encountered for any one symptom or syndrome. The DVD patient cases are referenced by initial symptom or syndrome
More informationThe Israeli population carrier screening program. Joël Zlotogora MD, PhD Hadassah medical school Hebrew University Jerusalem
The Israeli population carrier screening program Joël Zlotogora MD, PhD Hadassah medical school Hebrew University Jerusalem The Israeli population 2015 8,134,500 inhabitants Jews (75.1%) Ashkenazi, non
More informationMUSCULOSKELETAL AND NEUROLOGICAL DISORDERS
MUSCULOSKELETAL AND NEUROLOGICAL DISORDERS There are a wide variety of Neurologic and Musculoskeletal disorders which can impact driving safety. Impairment may be the result of altered muscular, skeletal,
More informationPostnatal Exome Sequencing
Postnatal Exome Sequencing Ata Bushehri, MD, PhD candidate Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran Genetic Counseling Overview Pattern of Inheritance
More informationBTS Guideline for Respiratory Management of Children with Neuromuscular Weakness
BTS Guideline for Respiratory Management of Children with Neuromuscular Weakness Online Appendix 2 Search strategy: Run March 2010 and May 2011 Databases searched: MEDLINE (Ovid) MEDLINE In-Process & Other
More informationObjective Aging and neurodegenerative diseases Common neurodegenerative diseases Pathogenesis Treatment strategies based on basic-science
Effect of Aging on Nervous System From Basic Neuroscience to Clinical Practice: Neurodegenerative Diseases Associate Professor Somsak Tiamkao Division of Neurology, Department of Medicine Faculty of Medicine,
More informationPresentation and investigation of mitochondrial disease in children
Presentation and investigation of mitochondrial disease in children Andrew Morris Willink Unit, Manchester Mitochondrial function Carbohydrate Fat Respiratory chain Energy Mitochondria are the product
More informationTHIAMINE TRANSPORTER TYPE 2 DEFICIENCY
THIAMINE TRANSPORTER TYPE 2 DEFICIENCY WHAT IS THE THIAMINE TRANSPORTER TYPE 2 DEFICIENCY (hthtr2)? The thiamine transporter type 2 deficiency (hthtr2) is a inborn error of thiamine metabolism caused by
More informationSchedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
Building 9 Contact: Dr Catherine Sturgeon BioQuarter Tel: +44 (0)131-2426885 Little France Road Fax: +44 (0)131-242-6882 E-Mail: c.sturgeon@ed.ac.uk Websites: http://edqas.org EH16 4UX Proficiency Testing
More informationAid to the MRCP PACES Volume 1 - Stations 1, 3 and 5,
Aid to the MRCP PACES Volume 1 - Stations 1, 3 and 5, Ryder ISBN-13: 9780470655092 Table of Contents Preface Preface to the third edition Preface to the second edition Preface to the first edition Introduction
More informationStandard Therapies - Cord Blood
A healthy future is in your hands 01 02 03 04 Standard Therapies - Cord Blood Clinical Trials with Blood - Forming Stem Cells Gene Therapy for Inherited Disorders Using Blood - Forming Stem Cells Clinical
More informationCLINICAL SIGNS SUGGESTIVE OF A NEUROMETABOLIC DISEASE. Bwee Tien Poll-The Amsterdam UMC The Netherlands
CLINICAL SIGNS SUGGESTIVE OF A NEUROMETABOLIC DISEASE Bwee Tien Poll-The Amsterdam UMC The Netherlands FRAMEWORK OF PRINCIPALS 1. Problem-oriented clinical approach 2. Biomarkers in plasma, urine, CSF
More informationClinical Summaries. CLN1 Disease, infantile onset and others
Clinical Summaries CLN1 Disease, infantile onset and others The gene called CLN1 lies on chromosome 1. CLN1 disease is inherited as an autosomal recessive disorder, which means that both chromosomes carry
More informationC-type: For each numbered item or question, indicate whether it is associated
C-type: For each numbered item or question, indicate whether it is associated with: (A) A only (B) B only (C) Both A and B (D) Neither A nor B ( ) 1. About neuroleptic malignant syndrome and serotonin
More informationCoagulation factor VII deficiency. Hemophilia A (German Shepherd Dog, type 1) Pyruvate kinase deficiency (Labrador Retriever type)
Blood and Clotting Coagulation factor VII deficiency Elliptocytosis Hemophilia A (German Shepherd Dog, type 2) Pyruvate kinase deficiency (Labrador Retriever type) Thrombopathia (American Eskimo Dog type)
More informationContents 1 Normal Histology and Commonly Used Stains 2 Basic Pathologic Reactions
Contents 1 Normal Histology and Commonly Used Stains.... 1 1.1 Cells of the Nervous System... 1 1.1.1 Neurons... 1 1.1.2 Astrocytes.... 2 1.1.3 Oligodendrocytes... 5 1.1.4 Schwann Cells... 5 1.1.5 Ependyma....
More informationGENETICS AND TREATMENT OF DYSTONIA
GENETICS AND TREATMENT OF DYSTONIA Oksana Suchowersky, M.D., FRCPC, FCCMG Professor of Medicine, Medical Genetics, and Psychiatry Toupin Research Chair in Neurology DYSTONIA Definition: abnormal sustained
More informationA Lawyer s Perspective on Genetic Screening Performed by Cryobanks
A Lawyer s Perspective on Genetic Screening Performed by Cryobanks As a lawyer practicing in the area of sperm bank litigation, I have, unfortunately, represented too many couples that conceived a child
More informationOverview of Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders
Overview of Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders What is NBIA? Neurodegeneration with Brain Iron Accumulation is a group of inherited neurological disorders characterized by
More informationTable of Contents. 1 Architecture of the peripheral nerve P. Young, M. Boentert
Table of Contents z General part 1 Architecture of the peripheral nerve... 3 P. Young, M. Boentert Introduction... 3 1.1 Cellular components of the PNS... 3 1.2 Architecture of the myelin compartment..
More informationWhole exome sequencing Gene package Neurodegeneration version 3,
Whole Exome Sequencing Gene package Neurodegeneration, version 3, 30 7 2018 Technical information DNA was enriched using Agilent SureSelect Clinical Research Exome V2 capture and paired end sequenced on
More informationNYEIS Version 4.3 (ICD) ICD - 10 Codes Available in NYEIS at time of version launch (9/23/2015)
D82.1 Di George's syndrome E63.9 Nutritional deficiency, unspecified E70.21 Tyrosinemia E70.29 Other disorders of tyrosine metabolism E70.30 Albinism, unspecified E70.5 Disorders of tryptophan metabolism
More informationCardiac Considerations and Care in Children with Neuromuscular Disorders
Cardiac Considerations and Care in Children with Neuromuscular Disorders - importance of early and ongoing treatment, management and available able medications. Dr Bo Remenyi Department of Cardiology The
More informationWhat s New in Newborn Screening?
What s New in Newborn Screening? Funded by: Illinois Department of Public Health Information on Newborn Screening Newborn screening in Illinois is mandated and administered by the Illinois Department of
More informationResults for Trendy. Explanation of Results
Canine HealthCheck Results for Trendy Trendy's genetic health profile: Trendy's appearance profile: Trendy is not at-risk for any of the diseases tested Trendy is a Female Trendy is not a carrier for any
More informationNatural History of JNCL and other NCLs
Natural History of JNCL and other NCLs Jonathan W. Mink, MD PhD Departments of Neurology, Neurobiology & Anatomy, Brain & Cognitive Sciences, and Pediatrics University of Rochester Neuronal Ceroid Lipofuscinosis
More informationNeurodevelopment. Checkpoints in children with congenital heart disease
Neurodevelopment Checkpoints in children with congenital heart disease Jeehun Lee, M.D., PhD. Pediatric Neurology Samsung Medical Center Sungkyunkwan University, School of Medicine Heart and Brain : Why
More informationIndex. Note: Page numbers of article titles are in boldface type.
Index Note: Page numbers of article titles are in boldface type. A Abscess(es) epidural anesthesia-related, 825 826 ACE inhibitors. See Angiotensin-converting enzyme (ACE) inhibitors Acetaminophen for
More informationINDIANA HEALTH COVERAGE PROGRAMS
INDIANA HEALTH COVERAGE PROGRAMS PROVIDER CODE TABLES Injections, Vaccines, and Other Physician-Administered Drugs Codes Note: Due to possible changes in Indiana Health Coverage Programs (IHCP) policy
More informationFourth Year BPT Degree Examinations, October Clinical Cardio Respiratory Disorders and Surgery
QP CODE:403014 Clinical Cardio Respiratory Disorders and Surgery 1. Classify congenital heart disease. What are the clinical features and management of tetrology of fallot. 2. Define respiratory failure.
More informationNeurology. Access Center 24/7 access for referring physicians (866) 353-KIDS (5437)
Neurology The Neurology practice at Valley Children s provides diagnostic services, medical treatment, and followup care to infants, children, and adolescents who have suspected or confirmed neurological
More informationReproductive Physiology Primordial Germ Cells Yolk Sac Sex Chromosomes Females Males Sex-Linked Traits
Reproductive Physiology Primordial Germ Cells - from Yolk Sac these migrate to fetus when it is 5 weeks old - these cells give rise to the gonads (ovaries for female, testes for male) first they form the
More informationUpdate on the Genetics of Ataxia. Vicki Wheelock MD UC Davis Department of Neurology GHPP Clinic
Update on the Genetics of Ataxia Vicki Wheelock MD UC Davis Department of Neurology GHPP Clinic Outline Definitions Review of genetics Autosomal Dominant cerebellar ataxias Autosomal Recessive cerebellar
More informationBeyond Mendel s Laws of Inheritance
Beyond Mendel s Laws of Inheritance 2006-2007 Extending Mendelian genetics Mendel worked with a simple system peas are genetically simple most traits are controlled by a single gene each gene has only
More informationMovement disorders. Dr Rick Leventer Royal Children s Hospital
Movement disorders Dr Rick Leventer Royal Children s Hospital richard.leventer@rch.org.au Movement disorders! conditions that affect the speed, fluency, quality, and ease of movement! usually affect TONE
More informationReproducibility with zebrafish models of human health and disease
Reproducibility with zebrafish models of human health and disease Monte Westerfield, University of Oregon, Eugene, USA Sponsored by the Office of the Director National Institutes of Health, the National
More informationProject Initiation Document Including Criteria for a Regional Approach
Meeting: IPG Date: 6 th March 2013 Item: 20/13 (ii) NORTH OF SCOTLAND PLANNING GROUP Project Initiation Document Including Criteria for a Regional Approach Clinical Facilitator - Neuromuscular Author:
More informationFABRY DISEASE 12/30/2012. Ataxia-Telangiectasia. Ophthalmologic Signs of Genetic Neurological Disease
Ophthalmologic Signs of Genetic Neurological Disease ES ROACH,MD. Ophthalmologic Signs of Genetic Neurological Disease Conjunctival lesions Corneal lesions Lesions of iris & lens Retinal vascular lesions
More informationDisorders of Muscle. Disorders of Muscle. Muscle Groups Involved in Myopathy. Needle Examination of EMG. History. Muscle Biopsy
Disorders of Muscle Disorders of Muscle Zakia Bell, M.D. Associate Professor of Neurology and Physical Medicine & Rehabilitation Virginia Commonwealth University Cardinal symptom of diseases of the muscle
More informationResults for Dar. These tests were developled and performed by Paw Print Genetics, Spokane WA. Explanation of Results
Canine HealthCheck Results for Dar Dar's demographic profile: Call Name: Dar Registered Name: Newman's Allendar of Lost Acres Breed: Collie Sex: Male Age: 0 Owner: Registration #: DN47650805 Microchip/Tattoo:
More information23andMe Reports GENETIC HEALTH RISK REPORTS. Increased risk for breast and ovarian cancer. function
1 23andMe Reports GENETIC HEALTH RISK REPORTS BRCA1/BRCA2 Late-Onset Alzheimer's Disease Parkinson's Disease Age-Related Macular Degeneration Alpha-1 Antitrypsin Deficiency Celiac Disease G6PD Deficiency
More informationUsing 3-Digit ICD-9-CM Codes with the Elixhauser Comorbidity Index
Congestive Heart Failure 398.91 Rheumatic heart failure (congestive) 398 Other rheumatic heart disease 402.01, 402.11, 402.91 402 Hypertensive heart disease 404.01, 404.03, 404.11, 404.13, 404.91, 404.93
More informationThe Floppy Baby. Clare Betteridge
The Floppy Baby Clare Betteridge The floppy baby Identification Evaluation Investigation Diagnosis Examples What is a floppy baby? Elbows and knees loosely extended. Head control is usually poor or absent.
More informationGeneral Approach to Genetic Testing
Protocol General Approach to Genetic Testing (20491) Medical Benefit Effective Date: 01/01/17 Next Review Date: 11/18 Preauthorization Yes Review Dates: 01/11, 01/12, 09/12, 05/13, 09/13, 09/14, 09/15,
More informationSchedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK University Hospitals NHS Foundation Trust, Level 1, The Women s Centre John Radcliffe Hospital University Hospitals NHS Foundation Trust OX3
More informationRecent Advances in Neurology 2014: Neuromuscular Case Presentations
Recent Advances in Neurology 2014: Neuromuscular Case Presentations Jeffrey W. Ralph, MD Associate Clinical Professor Patient #1: Young woman with severe polyneuropathy 25 year-old woman Normal motor and
More informationThe Neurology of HIV Infection. Carolyn Barley Britton, MD, MS Associate Professor of Clinical Neurology Columbia University
The Neurology of HIV Infection Carolyn Barley Britton, MD, MS Associate Professor of Clinical Neurology Columbia University HIV/AIDS Epidemiology World-wide pandemic, 40 million affected U.S.- Disproportionate
More information7 Medical Genetics. Hemoglobinopathies. Hemoglobinopathies. Protein and Gene Structure. and Biochemical Genetics
SESSION 7 Medical Genetics Hemoglobinopathies and Biochemical Genetics J a v a d F a s a J a m s h i d i U n i v e r s i t y o f M e d i c a l S c i e n c e s, N o v e m b e r 2 0 1 7 Hemoglobinopathies
More informationTOXIC AND NUTRITIONAL DISORDER MODULE
TOXIC AND NUTRITIONAL DISORDER MODULE Objectives: For each of the following entities the student should be able to: 1. Describe the etiology/pathogenesis and/or pathophysiology, gross and microscopic morphology
More informationNeurological Board Examination (I I)
Neurological Board Examination (I I) 2006 09 16 B-type: For each numbered item, select the heading most closely associated with it. Each heading may be selected once, more than once, or not all Part 1
More informationRadiculopathies Carpal tunnel syndrome Tarsal tunnel syndrome Trauma to nerves Motor/sensory deficits Hot/cold sensation Neuritis
Contact: Toll-free: 1-877-268-1346 Locals: 404-814-0161 Forms: www.pmdtesting.com NCVs aid in the evaluation of: Herniated Disks Peripheral neuropathies Numbness and tingling Pain in the extremities Atrophy
More informationAn Introduction to mitochondrial disease.
9 th September 2017 An Introduction to mitochondrial disease. Dr Andy Schaefer Consultant Neurologist and Clinical Lead NHS Highly Specialised Rare Mitochondrial Disease Service and Wellcome Trust Centre
More informationPathogenesis of Degenerative Diseases and Dementias. D r. Ali Eltayb ( U. of Omdurman. I ). M. Path (U. of Alexandria)
Pathogenesis of Degenerative Diseases and Dementias D r. Ali Eltayb ( U. of Omdurman. I ). M. Path (U. of Alexandria) Dementias Defined: as the development of memory impairment and other cognitive deficits
More informationMITOCHONDRIAL DISEASE. Amel Karaa, MD Mitochondrial Disease Program Massachusetts General Hospital
MITOCHONDRIAL DISEASE Amel Karaa, MD Mitochondrial Disease Program Massachusetts General Hospital Disclosures & Disclaimers United Mitochondrial Disease Foundation Research Grant North American Mitochondrial
More informationDOWNLOAD OR READ : MYOPATHIES AND MUSCLE DISEASES HANDBOOK OF CLINICAL NEUROLOGY PDF EBOOK EPUB MOBI
DOWNLOAD OR READ : MYOPATHIES AND MUSCLE DISEASES HANDBOOK OF CLINICAL NEUROLOGY PDF EBOOK EPUB MOBI Page 1 Page 2 myopathies and muscle diseases handbook of clinical neurology myopathies and muscle diseases
More informationMEDICARE HCPCS CODING FOR MATRX PRODUCTS
MEDICARE HCPCS CODING F MATRX PRODUCTS Cushions Retail Medicare Code Allowable Matrx-Vi Cushion (to 21") $ 425.00 E2607 $ 289.85 Matrx-Vi Cushion (22") $ 475.00 E2608 $ 348.09 Matrx-Vi Heavy Duty Cushion
More informationResults for Farrah. These tests were developled and performed by Paw Print Genetics, Spokane WA. Explanation of Results
Canine HealthCheck Results for Farrah Farrah's demographic profile: Call Name: Farrah Registered Name: Amber Bear's She's All That Breed: Collie Sex: Female Age: 1 Owner: Registration #: DN44645703 Microchip/Tattoo:
More informationBewegingsstoornisssen genpanel v1 (203 genen)
Bewegingsstoornisssen genpanel v1 (203 genen) ABCB7 99,8 Anemia, sideroblastic, with ataxia, 301310 ABCD1 98,7 Adrenoleukodystrophy, 300100 Adrenomyeloneuropathy, adult, 300100 ABHD12 93,8 Polyneuropathy,
More informationMAINTENANCE OF CERTIFICATION COMBINED EXAMINATION IN NEUROLOGY Content Blueprint (July 22, 2016)
MAINTENANCE OF CERTIFICATION COMBINED EXAMINATION IN NEUROLOGY 2017 Content Blueprint (July 22, 2016) Number of questions: 100 01. Headache disorders 7 9% 02. Pain disorders 1 2% 03. Epilepsy and episodic
More informationDSS-1. No financial disclosures
DSS-1 No financial disclosures Clinical History 9 year old boy with past medical history significant for cerebral palsy, in-turning right foot, left clubfoot that was surgically corrected at 3 years of
More informationAllied and Therapeutic Extender Benefit
Allied and Therapeutic Extender Benefit 2012 Allied and Therapeutic Extender Benefit The Allied and Therapeutic Extender Benefit is available on the Executive and Comprehensive Plans only. Overview This
More informationWhole exome sequencing Gene package Movement disorders version 3,
Whole Exome Sequencing Gene package Movement disorders, version 3, 1 7 2017 Technical information After DNA was enriched using Agilent Sureselect Clinical Research Exome (CRE) Capture, samples were run
More informationAMERICAN BOARD OF PSYCHIATRY AND NEUROLOGY, INC. MAINTENANCE OF CERTIFICATION COMBINED EXAMINATION IN NEUROLOGY
MAINTENANCE OF CERTIFICATION COMBINED EXAMINATION IN NEUROLOGY 2015 Content Blueprint (August 5, 2014) Number of questions: 100 01. Headache disorders 7 9% 02. Pain disorders 1 2% 03. Epilepsy and episodic
More informationWhat s New in Newborn Screening?
What s New in Newborn Screening? Funded by: Illinois Department of Public Health Information on Newborn Screening Newborn screening in Illinois is administered by the Illinois Department of Public Health.
More informationWhole exome sequencing Gene package Movement disorders version 3.1,
Whole Exome Sequencing Gene package Movement disorders, version 3.1, 22 11 2017 Technical information DNA was enriched using Agilent SureSelect Clinical Research Exome V2 capture and paired end sequenced
More informationResults for Diva. These tests were developled and performed by Paw Print Genetics, Spokane WA. Explanation of Results
Canine HealthCheck Results for Diva Diva's demographic profile: Call Name: Diva Registered Name: Rus Pekos Diva Chudo Prirody Breed: Golden Retriever Sex: Female Approx. DOB: 2016-07 Owner: Registration
More informationMuscular Dystrophies. Pinki Munot Consultant Paediatric Neurologist Great Ormond Street Hospital Practical Neurology Study days April 2018
Muscular Dystrophies Pinki Munot Consultant Paediatric Neurologist Great Ormond Street Hospital Practical Neurology Study days April 2018 Definition and classification Clinical guide to recognize muscular
More informationCharcot-Marie-Tooth Disease (CMT) Sometimes known as Hereditary Motor and Sensory neuropathy (HMSN) or Peroneal Muscular Atrophy (PMA)
Version: 2 Published: January 2004 Updated: December 2009 Date of review: November 2011 Author: Dr.Hilton-Jones MD, FRCP, FRCPE Clinical Director, Oxford MDC Muscle and Nerve Centre, and revised by Dr.
More informationFatty Acids Synthesis L3
Fatty Acids Synthesis L3 The pathway for fatty acid synthesis occurs in the cytoplasm, whereas, oxidation occurs in the mitochondria. The other major difference is the use of nucleotide co-factors. Oxidation
More information