Genome Summary. Sequencing Coverage: Variation Counts: Known Phenotype Summary: 106 disease or trait variations are found in this genome

Size: px
Start display at page:

Download "Genome Summary. Sequencing Coverage: Variation Counts: Known Phenotype Summary: 106 disease or trait variations are found in this genome"

Transcription

1 Report Date: August 24, 2016 Software Annotation Version: 8 Genome Summary Name: (unknown) Genome ID: GFG_filtered_unphased_genotypes Sequencing Provider: (unknown) Sequencing Type: (unknown) Sequencing Coverage: Full Genome Genes Exons Protein-coding 0.018% 553,187 bases 0.029% 479,129 bases 0.283% 296,803 bases 0.685% 276,885 bases Variation Counts: Total number of variations: Heterozygous: Homozygous (x2): Rare variations (MAF <1%): SNV: MNV: Insertion: Deletion: 213,080 96,520 58,280 1, , Nonsense: Frameshift: Misstart: Nonstop: Inframe Ins/Del: Missense: Splice site: Coding synonymous: mrna untranslated: Intron: , ,678 8,518 99,365 Known Phenotype Summary: 42,032 variations known to affect a disease or trait were assessed 106 disease or trait variations are found in this genome Phenotype variation coverage 8.7% Successfully sequenced 3,641 phenotype variations Missing data for 38,391 phenotype variations Clinical classification: Pathogenic Likely pathogenic Risk factor Drug response Association Protective (Page 1 of 6)

2 Selected Phenotype Variation Details: Chr10: 126,100,579 G>T Pathogenic Phenotype: Ornithine aminotransferase deficiency Zygosity: Homozygous (x2) dbsnp ID: rs Population Allele Frequency: <0.01% Gene Impact: OAT INTRON MISSENSE N-54-K Supporting Publications: Gyrate atrophy of the choroid and retina due to deficiency of ornithine aminotransferase is clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence (summary by Peltola et al., 2002). See for another hyperornithinemia syndrome. Chr1: 171,076,966 G>A Pathogenic Phenotype: Trimethylaminuria, mild Trimethylaminuria Zygosity: Heterozygous (x1) dbsnp ID: rs Population Allele Frequency: 38.28% Gene Impact: FMO3 MISSENSE E-158-K MISSENSE E-138-K MISSENSE E-95-K Supporting Publications: Trimethylaminuria is characterized by a fishy odor resembling that of rotten or decaying fish that results from excess excretion of trimethylamine in the urine, breath, sweat, and reproductive fluids. No physical symptoms are associated with trimethylaminuria. Affected individuals appear normal and healthy; however, the unpleasant odor often results in social and psychological problems. Symptoms are usually present from birth and may worsen during puberty. In females, symptoms are more severe just before and during menstruation, after taking oral contraceptives, and around the time of menopause. Chr1: 231,408,091 A>G Pathogenic Phenotype: Rhizomelic chondrodysplasia punctata type 2 Zygosity: Heterozygous (x1) Population Allele Frequency: 16.12% Gene Impact: GNPAT MISSENSE D-519-G dbsnp ID: rs (Page 2 of 6)

3 MISSENSE D-458-G Supporting Publications: Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (215100) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see Chr4: 187,158,034 G>A Pathogenic Phenotype: Prekallikrein deficiency Zygosity: Homozygous (x2) dbsnp ID: rs Population Allele Frequency: 53.62% Gene Impact: KLKB1 MISSENSE S-143-N Supporting Publications: Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein deficiency. The condition is usually discovered when blood tests are done for other reasons. A few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding after surgery. However, these are common problems in the general population, and most affected individuals have other risk factors for developing them, so it is unclear whether their occurrence is related to prekallikrein deficiency. The remaining known phenotype variations affect the following traits and diseases: Obesity, association with Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 Serum level of interleukin-6 soluble receptor Familial medullary thyroid carcinoma Hyperlipidemia, familial combined, susceptibility to Lupus nephritis, susceptibility to Prostate cancer, susceptibility to Venous thrombosis, susceptibility to Thyrotoxic periodic paralysis Legionellosis Lymphoproliferative disorders, susceptibility to Hypertension, essential, susceptibility to Fasting plasma glucose level quantitative trait locus 5 Ovarian response to FSH stimulation Fetal hemoglobin quantitative trait locus 5 Gastric cancer susceptibility after h. pylori infection Inflammatory bowel disease 10, susceptibility to Bilirubin, serum level of, quantitative trait locus 1 Human immunodeficiency virus type 1, rapid progression to AIDS Leanness, susceptibility to Recombination rate quantitative trait locus 1 Diabetes mellitus, noninsulindependent, association with Metabolic syndrome, protection against Systemic lupus erythmatosus, association with Congenital human immunodeficiency virus Bietti crystalline corneoretinal dystrophy Neural tube defects, folate-sensitive, susceptibility to Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Familial hypercholesterolemia Low density lipoprotein cholesterol level quantitative trait locus 3 Asthma, susceptibility to Atopy, susceptibility to Hypertension, diastolic, resistance to Cancer progression and tumor cell motility C3HEX, ability to smell Myocardial infarction Asthma and atopy, susceptibility to Psoriasis susceptibility 13 Insulin resistance, susceptibility to Obesity Diabetes mellitus, insulin-dependent, 5 Estrogen resistance Superoxide dismutase 2 polymorphism Asthma-related traits, susceptibility to, 2 Bone mineral density quantitative trait locus 15 Coronary artery disease, susceptibility to Phenylthiocarbamide tasting Autism 15 Diabetes mellitus, type 2, susceptibility to Autoimmune thyroid disease 3... and more... Get full details on the remaining 102 known phenotype variations within the Enlis Genome software. (Page 3 of 6)

4 Interesting Variations of Uncertain Significance: Filter steps: Protein-disrupting variations (Nonsense, Frameshift, Misstart, Splice Disrupt) Phenotype Genes - Within a gene already implicated in a disease or trait Global allele frequency < 1% Uncertain clinical significance Results: Variation Gene Impact Allele Freq. Gene Phenotype Chr1: 237,804,287 T>A RYR2 NONSENSE 0.00% Arrhythmogenic right ventricular dysplasia Ventricular tachycardia Chr8: 101,232,564 T>G SPAG1 NONSENSE 0.00% Ciliary dyskinesia Chr9: 139,412,701 A>T NOTCH1 NONSENSE 0.00% Adams-Oliver syndrome Aortic valve disease Chr11: 116,661,635 T>A APOA5 NONSENSE 0.00% Hyperchylomicronemia Hypertriglyceridemia Chr12: 7,362,655 C>T PEX5 NONSENSE 0.01% Peroxisome biogenesis disorder + 3 additional variations Filter steps: Predicted deleterious variations Phenotype Genes - Within a gene already implicated in a disease or trait Global allele frequency < 1% Uncertain clinical significance Results: Variation Gene Impact Allele Freq. Chr1: 22,217,095 C>T HSPG2 MISSENSE 0.02% Chr1: 114,367,793 C>T RP5-1073O3. 2 MISSENSE 0.01% Chr1: 120,278,017 C>T PHGDH MISSENSE 0.03% Chr2: 167,145,152 G>A SCN9A MISSENSE 0.05% Chr2: 216,284,009 C>T FN1 MISSENSE 0.37% + 15 additional variations Gene Phenotype Dyssegmental dysplasia Schwartz- Jampel syndrome Neu-Laxova syndrome Phosphoglycerate dehydrogenase deficiency Dravet syndrome Epilepsy Erythermalgia Febrile seizures Insensitivity to pain Neuropathy, Hereditary sensory and autonomic Paroxysmal extreme pain disorder Small fiber neuropathy Glomerulopathy Plasma fibronectin deficiency (Page 4 of 6)

5 Notes * Mode of inheritance defintions: Autosomal Recessive Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i. e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). Confidence Star Levels: Review Status: Classified by single submitter with no evidence provided, or multiple conficting interpretations Review Status: Classified by single submitter with evidence Review Status: Classified by multiple submitters Review Status: Reviewed by expert panel Review Status: Reviewed by professional society Human genome reference version: HomoSapiens_GRCh37 (Page 5 of 6)

6 Discover more with Enlis Genome software: Your data has been converted. It is now ready for analysis with the awardwinning Enlis Genome software! Comprehensive variation annotation Phenotype Explorer Tool - connect your data and generate PDF reports on over 6,000 diseases and traits Variation Filter - highly optimized with a point-and-click interface Gene Categories and Pathway Tool - evaluate over 20,000 built-in gene categories Homozygous Region Tool - to find regions associated with recessive disease and much more... Get started at: (Page 6 of 6)

Genome Summary. Sequencing Coverage: Variation Counts: Known Phenotype Summary: 131 disease or trait variations are found in this genome

Genome Summary. Sequencing Coverage: Variation Counts: Known Phenotype Summary: 131 disease or trait variations are found in this genome Report Date: August 2, 215 Software Annotation Version: 8 Genome Summary Name: Greg Mendel Genome ID: genome_greg_mendel_dad Sequencing Provider: 23andMe Sequencing Type: Genotyping SNP Array Sequencing

More information

Genome Summary. Sequencing Coverage: Variation Counts: Known Phenotype Summary: 152 disease or trait variations are found in this genome

Genome Summary. Sequencing Coverage: Variation Counts: Known Phenotype Summary: 152 disease or trait variations are found in this genome Report Date: August 19, 2015 Software Annotation Version: 8 Genome Summary Name: EUR NA12877 Father Genome ID: NA12877-200-37-ASM Sequencing Provider: Complete Genomics Sequencing Type: Whole Genome Sequencing

More information

Phenotype Report. Num. Positions Not Called (Missing data) Num. Variants Assessed

Phenotype Report. Num. Positions Not Called (Missing data) Num. Variants Assessed Report Date: August 19, 2015 Software Annotation Version: 8 Report Name: NA12144 NW European Genome : NA12144_S1 Sequencing Provider: Illumina Sequencing Type: Exome : Retinitis Pigmentosa Description:

More information

Genetic Diseases. SCPA202: Basic Pathology

Genetic Diseases. SCPA202: Basic Pathology Genetic Diseases SCPA202: Basic Pathology Amornrat N. Jensen, Ph.D. Department of Pathobiology School of Science, Mahidol University amornrat.nar@mahidol.ac.th Genetic disease An illness caused by abnormalities

More information

Hereditary disorders of peroxisomal metabolism.

Hereditary disorders of peroxisomal metabolism. Hereditary disorders of peroxisomal metabolism http://www.cytochemistry.net/cell-biology/perox.jpg Peroxisomes single membrane organelles from less than 100 to more than 1000 per eucaryotic cell more than

More information

How much do you know about illnesses or health problems for your parents, grandparents, brothers, sisters, and/or children? 1 A lot Some None at all

How much do you know about illnesses or health problems for your parents, grandparents, brothers, sisters, and/or children? 1 A lot Some None at all Family Health History Please answer each question as honestly as possible. There are no right or wrong answers to nay of the questions. It is important that you answer as many questions as you can. We

More information

variant led to a premature stop codon p.k316* which resulted in nonsense-mediated mrna decay. Although the exact function of the C19L1 is still

variant led to a premature stop codon p.k316* which resulted in nonsense-mediated mrna decay. Although the exact function of the C19L1 is still 157 Neurological disorders primarily affect and impair the functioning of the brain and/or neurological system. Structural, electrical or metabolic abnormalities in the brain or neurological system can

More information

Genetic Disorders. PART ONE: Detecting Genetic Disorders. Amniocentesis Chorionic villus sampling Karyotype Triple Screen Blood Test

Genetic Disorders. PART ONE: Detecting Genetic Disorders. Amniocentesis Chorionic villus sampling Karyotype Triple Screen Blood Test Genetic Disorders PART ONE: Detecting Genetic Disorders Amniocentesis Chorionic villus sampling Karyotype Triple Screen Blood Test Amniocentesis A technique for determining genetic abnormalities in a fetus

More information

Genetic Diseases. SCPA202: Basic Pathology

Genetic Diseases. SCPA202: Basic Pathology Genetic Diseases SCPA202: Basic Pathology Amornrat N. Jensen, Ph.D. Department of Pathobiology School of Science, Mahidol University amornrat.nar@mahidol.ac.th Genetic disease An illness caused by abnormalities

More information

Clinical Spectrum and Genetic Mechanism of GLUT1-DS. Yasushi ITO (Tokyo Women s Medical University, Japan)

Clinical Spectrum and Genetic Mechanism of GLUT1-DS. Yasushi ITO (Tokyo Women s Medical University, Japan) Clinical Spectrum and Genetic Mechanism of GLUT1-DS Yasushi ITO (Tokyo Women s Medical University, Japan) Glucose transporter type 1 (GLUT1) deficiency syndrome Mutation in the SLC2A1 / GLUT1 gene Deficiency

More information

Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier

Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name Choroideremia OMIM number for disease 303100 Disease alternative names please

More information

Cardiovascular Diseases and Diabetes

Cardiovascular Diseases and Diabetes Cardiovascular Diseases and Diabetes LEARNING OBJECTIVES Ø Identify the components of the cardiovascular system and the various types of cardiovascular disease Ø Discuss ways of promoting cardiovascular

More information

CANCER GENETICS PROVIDER SURVEY

CANCER GENETICS PROVIDER SURVEY Dear Participant, Previously you agreed to participate in an evaluation of an education program we developed for primary care providers on the topic of cancer genetics. This is an IRB-approved, CDCfunded

More information

Gene Expression and Mutation

Gene Expression and Mutation Gene Expression and Mutation GENE EXPRESSION: There are hormonal and environmental factors that may cause the expression of some genetic information. Some examples are: 1. The two- colour pattern of some

More information

A Lawyer s Perspective on Genetic Screening Performed by Cryobanks

A 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 information

Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier

Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name Leber congenital amaurosis OMIM number for disease 204000 Disease alternative

More information

Human inherited diseases

Human inherited diseases Human inherited diseases A genetic disorder that is caused by abnormality in an individual's DNA. Abnormalities can range from small mutation in a single gene to the addition or subtraction of a whole

More information

Hereditary disorders of peroxisomal metabolism.

Hereditary disorders of peroxisomal metabolism. Hereditary disorders of peroxisomal metabolism http://www.cytochemistry.net/cell-biology/perox.jpg Peroxisomes single membrane organelles from less than 100 to more than 1000 per eukaryotic cell more than

More information

THE CLINICAL BIOCHEMISTRY OF LIPID DISORDERS

THE CLINICAL BIOCHEMISTRY OF LIPID DISORDERS THE CLINICAL BIOCHEMISTRY OF LIPID DISORDERS Hormonal regulation INSULIN lipid synthesis, lipolysis CORTISOL lipolysis GLUCAGON lipolysis GROWTH HORMONE lipolysis CATECHOLAMINES lipolysis LEPTIN catabolism

More information

Genetic Testing and Analysis. (858) MRN: Specimen: Saliva Received: 07/26/2016 GENETIC ANALYSIS REPORT

Genetic Testing and Analysis. (858) MRN: Specimen: Saliva Received: 07/26/2016 GENETIC ANALYSIS REPORT GBinsight Sample Name: GB4411 Race: Gender: Female Reason for Testing: Type 2 diabetes, early onset MRN: 0123456789 Specimen: Saliva Received: 07/26/2016 Test ID: 113-1487118782-4 Test: Type 2 Diabetes

More information

NGS panels in clinical diagnostics: Utrecht experience. Van Gijn ME PhD Genome Diagnostics UMCUtrecht

NGS panels in clinical diagnostics: Utrecht experience. Van Gijn ME PhD Genome Diagnostics UMCUtrecht NGS panels in clinical diagnostics: Utrecht experience Van Gijn ME PhD Genome Diagnostics UMCUtrecht 93 Gene panels UMC Utrecht Cardiovascular disease (CAR) (5 panels) Epilepsy (EPI) (11 panels) Hereditary

More information

Human Genetic Diseases (non mutation)

Human Genetic Diseases (non mutation) mutation) Pedigrees mutation) 1. Autosomal recessive inheritance: this is the inheritance of a disease through a recessive allele. In order for the person to have the condition they would have to be homozygous

More information

Concurrent Practical Session ACMG Classification

Concurrent Practical Session ACMG Classification Variant Effect Prediction Training Course 6-8 November 2017 Prague, Czech Republic Concurrent Practical Session ACMG Classification Andreas Laner / Anna Benet-Pagès 1 Content 1. Background... 3 2. Aim

More information

CITATION FILE CONTENT/FORMAT

CITATION FILE CONTENT/FORMAT CITATION For any resultant publications using please cite: Matthew A. Field, Vicky Cho, T. Daniel Andrews, and Chris C. Goodnow (2015). "Reliably detecting clinically important variants requires both combined

More information

Stickler syndrome. Geert Mortier, MD, PhD Center for Medical Genetics Ghent University Hospital Ghent, Belgium

Stickler syndrome. Geert Mortier, MD, PhD Center for Medical Genetics Ghent University Hospital Ghent, Belgium Stickler syndrome Geert Mortier, MD, PhD Center for Medical Genetics Ghent University Hospital Ghent, Belgium Third European Course in Clinical Dysmorphology Rome, November 20-21, 2009 Stickler syndrome

More information

Patient Information: Patient Symptoms: Chiropractic Health & Wellness Center, a place for healing

Patient Information: Patient Symptoms: Chiropractic Health & Wellness Center, a place for healing , a place for healing. 323-656-4194 Patient Information: **PLEASE NOTE, THIS FORM CANNOT BE SUBMITTED BY A MOBILE DEVICE OR TABLET** Date First Name Sex Male Female Married/Civil Union: Home # Address

More information

Gaucher disease 3/22/2009. Mendelian pedigree patterns. Autosomal-dominant inheritance

Gaucher disease 3/22/2009. Mendelian pedigree patterns. Autosomal-dominant inheritance Mendelian pedigree patterns Autosomal-dominant inheritance Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Y-linked Examples of AD inheritance Autosomal-recessive inheritance

More information

Proteins. Length of protein varies from thousands of amino acids to only a few insulin only 51 amino acids

Proteins. Length of protein varies from thousands of amino acids to only a few insulin only 51 amino acids Proteins Protein carbon, hydrogen, oxygen, nitrogen and often sulphur Length of protein varies from thousands of amino acids to only a few insulin only 51 amino acids During protein synthesis, amino acids

More information

Laser Vein Center Thomas Wright MD Page 1 of 4

Laser Vein Center Thomas Wright MD Page 1 of 4 Demographics Laser Vein Center Thomas Wright MD Page 1 of 4 Patient Name: Address: City, St, Zip Primary Phone: Alternate: DOB: Social Security #: Insurance Information Primary Insurance ID# Group# Subscriber

More information

Dr. Ayman Mohsen Mashi, MBBS Consultant Hematology & Blood Transfusion Department Head, Laboratory & Blood Bank King Fahad Central Hospital, Gazan,

Dr. Ayman Mohsen Mashi, MBBS Consultant Hematology & Blood Transfusion Department Head, Laboratory & Blood Bank King Fahad Central Hospital, Gazan, Dr. Ayman Mohsen Mashi, MBBS Consultant Hematology & Blood Transfusion Department Head, Laboratory & Blood Bank King Fahad Central Hospital, Gazan, KSA amashi@moh.gov.sa 24/02/2018 β-thalassemia syndromes

More information

Patient Name (First, Middle, Last) Height Weight. Ethnicity Race Language. Address. City State Zip. Home Phone Cell Phone. Work Phone Other Phone

Patient Name (First, Middle, Last) Height Weight. Ethnicity Race Language. Address. City State Zip. Home Phone Cell Phone. Work Phone Other Phone Patient Name (First, Middle, Last) Height Weight Date of Birth Social Security # Gender Male Female Ethnicity Race Language Address City State Zip Home Phone Cell Phone Work Phone Other Phone Email Occupation

More information

SEX-LINKED INHERITANCE. Dr Rasime Kalkan

SEX-LINKED INHERITANCE. Dr Rasime Kalkan SEX-LINKED INHERITANCE Dr Rasime Kalkan Human Karyotype Picture of Human Chromosomes 22 Autosomes and 2 Sex Chromosomes Autosomal vs. Sex-Linked Traits can be either: Autosomal: traits (genes) are located

More information

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation Anita Becker-Heck#, Irene Zohn#, Noriko Okabe#, Andrew Pollock#, Kari Baker Lenhart,

More information

panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders

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 information

14 2 Human Chromosomes

14 2 Human Chromosomes 14-2 Human Chromosomes 1 of 25 Sex-Linked Genes Sex-Linked Genes The X chromosome and the Y chromosomes determine sex. Genes located on these chromosomes are called sex-linked genes. More than 100 sex-linked

More information

Covered Critical Illness Conditions Appendix

Covered Critical Illness Conditions Appendix Covered Critical Illness Conditions Appendix Effective Date: February 1, 2010 This Appendix contains definitions for those Conditions that are covered under the Manulife Financial Group Critical Illness

More information

Agro/Ansc/Bio/Gene/Hort 305 Fall, 2017 MEDICAL GENETICS AND CANCER Chpt 24, Genetics by Brooker (lecture outline) #17

Agro/Ansc/Bio/Gene/Hort 305 Fall, 2017 MEDICAL GENETICS AND CANCER Chpt 24, Genetics by Brooker (lecture outline) #17 Agro/Ansc/Bio/Gene/Hort 305 Fall, 2017 MEDICAL GENETICS AND CANCER Chpt 24, Genetics by Brooker (lecture outline) #17 INTRODUCTION - Our genes underlie every aspect of human health, both in function and

More information

Summary of the risk management plan (RMP) for Duavive (conjugated oestrogens / bazedoxifene)

Summary of the risk management plan (RMP) for Duavive (conjugated oestrogens / bazedoxifene) EMA/679870/2014 Summary of the risk management plan (RMP) for Duavive (conjugated oestrogens / bazedoxifene) This is a summary of the risk management plan (RMP) for Duavive, which details the measures

More information

City State Zip. Cell Phone. Other Phone. Gender Male Female Status Single Married Divorced Widowed. Height Weight EXERCISE Yes No Times per Week

City State Zip. Cell Phone. Other Phone. Gender Male Female Status Single Married Divorced Widowed. Height Weight EXERCISE Yes No Times per Week Patient Name (First Middle Last) Date of Birth Social Security # Address City State Zip Home Phone Work Phone Cell Phone Other Phone Email Place of Birth Occupation Retired Yes No Gender Male Female Status

More information

Basic Definitions. Dr. Mohammed Hussein Assi MBChB MSc DCH (UK) MRCPCH

Basic Definitions. Dr. Mohammed Hussein Assi MBChB MSc DCH (UK) MRCPCH Basic Definitions Chromosomes There are two types of chromosomes: autosomes (1-22) and sex chromosomes (X & Y). Humans are composed of two groups of cells: Gametes. Ova and sperm cells, which are haploid,

More information

Genetic and biochemical characteristics of patients with hyperlipidemia who require LDL apheresis

Genetic and biochemical characteristics of patients with hyperlipidemia who require LDL apheresis Genetic and biochemical characteristics of patients with hyperlipidemia who require LDL apheresis Mato Nagel, Ioan Duma, Constantina Vlad, Mandy Benke, Sylvia Nagorka Zentrum für Nephrologie & Stoffwechsel,

More information

CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY

CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY More genetic information requires cutting-edge interpretation techniques Whole Exome Sequencing For certain patients the combination of symptoms does not allow

More information

A rare case of muscular dystrophy with POMT2 and FKRP gene mutation. Present by : Ghasem Khazaei Supervisor :Dr Mina Mohammadi Sarband

A rare case of muscular dystrophy with POMT2 and FKRP gene mutation. Present by : Ghasem Khazaei Supervisor :Dr Mina Mohammadi Sarband A rare case of muscular dystrophy with POMT2 and FKRP gene mutation Present by : Ghasem Khazaei Supervisor :Dr Mina Mohammadi Sarband Index : Congenital muscular dystrophy (CMD) Dystroglycanopathies Walker-Warburg

More information

Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider

Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider TEST DISORDER/CONDITION POPULATION TRIAD Submitting laboratory: Exeter RGC Approved: Sept 2013 1. Disorder/condition

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: nusinersen_spinraza 03/2017 10/2017 10/2018 10/2017 Description of Procedure or Service Spinal muscular atrophy

More information

Preconception/prenatal family history questionnaire

Preconception/prenatal family history questionnaire 1 of 5 Today s date: Person completing questionnaire: Patient Partner/spouse Name Date of birth Occupation Marital status (married, divorced, widowed, single) Last grade completed Height Weight Adopted

More information

Thrombophilia. Diagnosis and Management. Kevin P. Hubbard, DO, FACOI

Thrombophilia. Diagnosis and Management. Kevin P. Hubbard, DO, FACOI Thrombophilia Diagnosis and Management Kevin P. Hubbard, DO, FACOI Clinical Professor of Medicine Kansas City University of Medicine and Biosciences-College of Osteopathic Medicine Kansas City, Missouri

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: nusinersen_spinraza 03/2017 10/2018 10/2019 10/2018 Description of Procedure or Service Spinal muscular atrophy

More information

CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY

CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY More genetic information requires cutting-edge interpretation techniques Whole Exome Sequencing For some patients, the combination of symptoms does not allow

More information

Welcome to the Genetic Code: An Overview of Basic Genetics. October 24, :00pm 3:00pm

Welcome to the Genetic Code: An Overview of Basic Genetics. October 24, :00pm 3:00pm Welcome to the Genetic Code: An Overview of Basic Genetics October 24, 2016 12:00pm 3:00pm Course Schedule 12:00 pm 2:00 pm Principles of Mendelian Genetics Introduction to Genetics of Complex Disease

More information

Genetic diagnosis of limb girdle muscular dystrophy type 2A, A Case Report

Genetic 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 information

Assessing Laboratory Performance for Next Generation Sequencing Based Detection of Germline Variants through Proficiency Testing

Assessing Laboratory Performance for Next Generation Sequencing Based Detection of Germline Variants through Proficiency Testing Assessing Laboratory Performance for Next Generation Sequencing Based Detection of Germline Variants through Proficiency Testing Karl V. Voelkerding, MD Professor of Pathology University of Utah Medical

More information

Advanced Concepts of Personal Training Study Guide Answer Key

Advanced Concepts of Personal Training Study Guide Answer Key Advanced Concepts of Personal Training Study Guide Answer Key Lesson 22 Working with Special Populations LESSON TWENTY TWO Lesson Twenty Two Working with Special Populations WORKING WITH SPECIAL POPULATIONS

More information

Lab Activity 36. Principles of Heredity. Portland Community College BI 233

Lab Activity 36. Principles of Heredity. Portland Community College BI 233 Lab Activity 36 Principles of Heredity Portland Community College BI 233 Terminology of Chromosomes Homologous chromosomes: A pair, of which you get one from mom, and one from dad. Example: the pair of

More information

CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE. Dr. Bahar Naghavi

CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE. Dr. Bahar Naghavi 2 CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE Dr. Bahar Naghavi Assistant professor of Basic Science Department, Shahid Beheshti University of Medical Sciences, Tehran,Iran 3 Introduction Over 4000

More information

RAZAN AL-ZOUBI. Farah Albustanji BELAL AZAB. 1 P a g e

RAZAN AL-ZOUBI. Farah Albustanji BELAL AZAB. 1 P a g e . 21 RAZAN AL-ZOUBI Farah Albustanji BELAL AZAB 1 P a g e Last time we talked about Tay-sachs disease, and we said that the Dominance (complete, incomplete, codominance) is not s.th that is straight forward,

More information

Asthma J45.20 Mild, uncomplicated J45.21 Mild, with (acute) exacerbation J45.22 Mild, with status asthmaticus

Asthma J45.20 Mild, uncomplicated J45.21 Mild, with (acute) exacerbation J45.22 Mild, with status asthmaticus A Fib & Flutter I48.0 Paroxysmal atrial fibrillation I48.1 Persistent atrial fibrillation I48.2 Chronic atrial fibrillation I48.3 Typical atrial flutter Asthma J45.20 Mild, uncomplicated J45.21 Mild, with

More information

Peroxisomal Disorders

Peroxisomal Disorders Peroxisomal Disorders George Gray Birmingham Childrens Hospital Peroxisomal Disorders Peroxisomes are large single membrane bound organelles that are present in the cytoplasm of all cells. They are formed

More information

Interpretation can t happen in isolation. Jonathan S. Berg, MD/PhD Assistant Professor Department of Genetics UNC Chapel Hill

Interpretation can t happen in isolation. Jonathan S. Berg, MD/PhD Assistant Professor Department of Genetics UNC Chapel Hill Interpretation can t happen in isolation Jonathan S. Berg, MD/PhD Assistant Professor Department of Genetics UNC Chapel Hill With the advent of genome-scale sequencing, variant interpretation is increasingly

More information

Genes and Genetic Diseases. Gene: Is a fundamental unit of information storage.

Genes and Genetic Diseases. Gene: Is a fundamental unit of information storage. GENETIC DISORDERS Genes and Genetic Diseases Gene: Is a fundamental unit of information storage. Genes determine the type of proteins and enzymes that are made by the cell. Genes control inheritance and

More information

Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier

Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name and description (please provide any alternative names you wish listed) (A)-Testing

More information

Who is filling out this intake form? Self Spouse Parent Guardian

Who is filling out this intake form? Self Spouse Parent Guardian Office Use Only: Reviewed with Patient Data Entry Scan & File Date: Date: Date: Initials: Initials: Initials: Today s Date: Who is filling out this intake form? Self Spouse Parent Guardian If you are not

More information

Multifactorial Inheritance

Multifactorial Inheritance S e s s i o n 6 Medical Genetics Multifactorial Inheritance and Population Genetics J a v a d J a m s h i d i F a s a 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, Novemb e r 2 0 1 7 Multifactorial

More information

Tumor suppressor genes D R. S H O S S E I N I - A S L

Tumor suppressor genes D R. S H O S S E I N I - A S L Tumor suppressor genes 1 D R. S H O S S E I N I - A S L What is a Tumor Suppressor Gene? 2 A tumor suppressor gene is a type of cancer gene that is created by loss-of function mutations. In contrast to

More information

QUESTION. Personal Behavior History. Donor Genetic History. Donor Medical History. Family Medical History PERSONAL BEHAVIOR HISTORY. Never N/A.

QUESTION. Personal Behavior History. Donor Genetic History. Donor Medical History. Family Medical History PERSONAL BEHAVIOR HISTORY. Never N/A. Donor 4576 Medical Profile S Personal Behavior History Donor Genetic History Donor Medical History Family Medical History PERSONAL BEHAVIOR HISTORY Current alcohol use: If yes, oz./week and type of alcohol:

More information

JULY 21, Genetics 101: SCN1A. Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology

JULY 21, Genetics 101: SCN1A. Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology JULY 21, 2018 Genetics 101: SCN1A Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology Disclosures: I have no financial interests or relationships to disclose. Objectives 1. Review genetic

More information

2

2 1 2 Although the term "cardiomyopathy" could theoretically apply to almost any disease affecting the heart, it is usually reserved for "severe myocardial disease leading to heart failure".cardiomyopathy

More information

Lecture 20. Disease Genetics

Lecture 20. Disease Genetics Lecture 20. Disease Genetics Michael Schatz April 12 2018 JHU 600.749: Applied Comparative Genomics Part 1: Pre-genome Era Sickle Cell Anaemia Sickle-cell anaemia (SCA) is an abnormality in the oxygen-carrying

More information

Dysmorphology Guy Besley

Dysmorphology Guy Besley Dysmorphology Guy Besley Willink Biochemical Genetics Unit, Manchester Children s s Hospital Dysmorphic presentation Congenital malformation Disorder of embryogenesis Intrauterine insult infection; chromosomal/genetic

More information

The basic methods for studying human genetics are OBSERVATIONAL, not EXPERIMENTAL.

The basic methods for studying human genetics are OBSERVATIONAL, not EXPERIMENTAL. Human Heredity Chapter 5 Human Genetics 5:1 Studying Human Genetics Humans are not good subjects for genetic research because: 1. Humans cannot ethically be crossed in desired combinations. 2. Time between

More information

Unifactorial or Single Gene Disorders. Hanan Hamamy Department of Genetic Medicine and Development Geneva University Hospital

Unifactorial or Single Gene Disorders. Hanan Hamamy Department of Genetic Medicine and Development Geneva University Hospital Unifactorial or Single Gene Disorders Hanan Hamamy Department of Genetic Medicine and Development Geneva University Hospital Training Course in Sexual and Reproductive Health Research Geneva 2011 Single

More information

Summary listing of suspected adverse reactions and events associated with use of Gardasil 01/06/ /12/2015

Summary listing of suspected adverse reactions and events associated with use of Gardasil 01/06/ /12/2015 1 2015-023780 2015-023788 2015-023805 2015-023819 2015-023820 2015-023821 Injection site swelling Transient immobility Abdominal pain Visual acuity reduced Chronic fatigue syndrome Mental disorder Pallor

More information

10/8/2018. Lecture 9. Cardiovascular Health. Lecture Heart 2. Cardiovascular Health 3. Stroke 4. Contributing Factor

10/8/2018. Lecture 9. Cardiovascular Health. Lecture Heart 2. Cardiovascular Health 3. Stroke 4. Contributing Factor Lecture 9 Cardiovascular Health 1 Lecture 9 1. Heart 2. Cardiovascular Health 3. Stroke 4. Contributing Factor 1 The Heart Muscular Pump The Heart Receives blood low pressure then increases the pressure

More information

LECOM Health Ophthalmology

LECOM Health Ophthalmology Patient Name: Date of Birth: New Patient Questionnaire Your answers will be used by your healthcare provider get an accurate history of your medical conditions and ocular concerns. If you are uncomfortable

More information

Evolve180 / Ideal Northwest Health Profile

Evolve180 / Ideal Northwest Health Profile Evolve180 / Ideal Northwest Health Profile ABOUT YOU First Name: Last Name: Address: City: State: Zip: Phone: Email: Date of Birth: Age: Height: Occupation: How did you find out about our program? Marital

More information

SALSA MLPA KIT P050-B2 CAH

SALSA MLPA KIT P050-B2 CAH SALSA MLPA KIT P050-B2 CAH Lot 0510, 0909, 0408: Compared to lot 0107, extra control fragments have been added at 88, 96, 100 and 105 nt. The 274 nt probe gives a higher signal in lot 0510 compared to

More information

CHR POS REF OBS ALLELE BUILD CLINICAL_SIGNIFICANCE

CHR POS REF OBS ALLELE BUILD CLINICAL_SIGNIFICANCE CHR POS REF OBS ALLELE BUILD CLINICAL_SIGNIFICANCE is_clinical dbsnp MITO GENE chr1 13273 G C heterozygous - - -. - DDX11L1 chr1 949654 A G Homozygous 52 - - rs8997 - ISG15 chr1 1021346 A G heterozygous

More information

Human Genetics Notes:

Human Genetics Notes: Human Genetics Notes: Human Chromosomes Cell biologists analyze chromosomes by looking at. Cells are during mitosis. Scientists then cut out the chromosomes from the and group them together in pairs. A

More information

All medical disabilities are similar in that they are caused

All medical disabilities are similar in that they are caused 01-Book 08-4914.qxd 2/14/2006 7:06 PM Page 9 1 What Are Medical Disabilities? All medical disabilities are similar in that they are caused by disease or health problems prior to, during, or after birth.

More information

1042SCG Genetics & Evolutionary Biology Semester Summary

1042SCG Genetics & Evolutionary Biology Semester Summary 1042SCG Genetics & Evolutionary Biology Semester Summary Griffith University, Nathan Campus Semester 1, 2014 Topics include: - Mendelian Genetics - Eukaryotic & Prokaryotic Genes - Sex Chromosomes - Variations

More information

CHRONIC MYELOGENOUS LEUKEMIA

CHRONIC 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 information

Lecture 17: Human Genetics. I. Types of Genetic Disorders. A. Single gene disorders

Lecture 17: Human Genetics. I. Types of Genetic Disorders. A. Single gene disorders Lecture 17: Human Genetics I. Types of Genetic Disorders A. Single gene disorders B. Multifactorial traits 1. Mutant alleles at several loci acting in concert C. Chromosomal abnormalities 1. Physical changes

More information

PRINCIPLES OF INHERITANCE AND VARIATION

PRINCIPLES OF INHERITANCE AND VARIATION PRINCIPLES OF INHERITANCE AND VARIATION Genetics Genetics is a branch of biology dealing with inheritance and variation of characters from parents of offspring. Inheritance Process by which characters

More information

MEDICAL GENOMICS LABORATORY. Non-NF1 RASopathy panel by Next-Gen Sequencing and Deletion/Duplication Analysis of SPRED1 (NNP-NG)

MEDICAL GENOMICS LABORATORY. Non-NF1 RASopathy panel by Next-Gen Sequencing and Deletion/Duplication Analysis of SPRED1 (NNP-NG) Non-NF1 RASopathy panel by Next-Gen Sequencing and Deletion/Duplication Analysis of SPRED1 (NNP-NG) Ordering Information Acceptable specimen types: Blood (3-6ml EDTA; no time limitations associated with

More information

A guide to understanding variant classification

A guide to understanding variant classification White paper A guide to understanding variant classification In a diagnostic setting, variant classification forms the basis for clinical judgment, making proper classification of variants critical to your

More information

Genetics All somatic cells contain 23 pairs of chromosomes 22 pairs of autosomes 1 pair of sex chromosomes Genes contained in each pair of chromosomes

Genetics All somatic cells contain 23 pairs of chromosomes 22 pairs of autosomes 1 pair of sex chromosomes Genes contained in each pair of chromosomes Chapter 6 Genetics and Inheritance Lecture 1: Genetics and Patterns of Inheritance Asexual reproduction = daughter cells genetically identical to parent (clones) Sexual reproduction = offspring are genetic

More information

Human Genetic Mutations

Human Genetic Mutations Human Genetic Mutations 2 Main Types of Mutations 1.) Chromosomal Mutations 2.) Gene Mutations What are chromosomes? Humans have 23 pairs of chromosomes, with one chromosome from each parent. The chromosomes

More information

VI.2. ELEMENTS FOR A PUBLIC SUMMARY

VI.2. ELEMENTS FOR A PUBLIC SUMMARY VI.2. ELEMENTS FOR A PUBLIC SUMMARY VI.2.1 Overview of Disease Epidemiology COCs containing DRSP-EE are indicated for the prevention of pregnancy in women who elect to use oral contraceptives as a method

More information

Advances in genetic diagnosis of neurological disorders

Advances in genetic diagnosis of neurological disorders Acta Neurol Scand 2014: 129 (Suppl. 198): 20 25 DOI: 10.1111/ane.12232 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ACTA NEUROLOGICA SCANDINAVICA Review Article Advances in genetic diagnosis

More information

Human Genetic Disorders

Human Genetic Disorders Human Genetic Disorders HOMOLOGOUS CHROMOSOMES Human somatic cells have 23 pairs of homologous chromosomes 23 are inherited from the mother and 23 from the father HOMOLOGOUS CHROMOSOMES Autosomes o Are

More information

Single Gene (Monogenic) Disorders. Mendelian Inheritance: Definitions. Mendelian Inheritance: Definitions

Single Gene (Monogenic) Disorders. Mendelian Inheritance: Definitions. Mendelian Inheritance: Definitions Single Gene (Monogenic) Disorders Mendelian Inheritance: Definitions A genetic locus is a specific position or location on a chromosome. Frequently, locus is used to refer to a specific gene. Alleles are

More information

BIOL212- Biochemistry of Disease. Metabolic Disorders: Diabetes

BIOL212- Biochemistry of Disease. Metabolic Disorders: Diabetes BIOL212- Biochemistry of Disease Metabolic Disorders: Diabetes Diabetes mellitus is, after heart disease and cancer, the third leading cause of death in the west. Insulin is either not secreted in sufficient

More information

The Role of Organic Acids in the Diagnosis of Peroxisomal Biogenesis Disorders

The Role of Organic Acids in the Diagnosis of Peroxisomal Biogenesis Disorders The Role of Organic Acids in the Diagnosis of Peroxisomal Biogenesis Disorders Catherine Dibden Northern General Hospital Sheffield Children s Hospital Peroxisomes Small sub-cellular organelles Present

More information

Lipids Testing

Lipids Testing Previously Listed as Edit 12 190.23 - Lipids Testing Lipoproteins are a class of heterogeneous particles of varying sizes and densities containing lipid and protein. These lipoproteins include cholesterol

More information

Genetics and Developmental Disabilities. Stuart K. Shapira, MD, PhD. Pediatric Genetics Team

Genetics and Developmental Disabilities. Stuart K. Shapira, MD, PhD. Pediatric Genetics Team Genetics and Developmental Disabilities Stuart K. Shapira, MD, PhD Pediatric Genetics Team National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention The

More information

Heart Disease. Signs and Symptoms

Heart Disease. Signs and Symptoms Heart Disease The term "heart disease" refers to several types of heart conditions. The most common type is coronary artery disease, which can cause heart attack, angina, heart failure, and arrhythmias.

More information

PLEASE COMPLETE ALL SECTIONS OF THIS FORM

PLEASE COMPLETE ALL SECTIONS OF THIS FORM PLEASE COMPLETE ALL SECTIONS OF THIS FORM Patient Name: Date of Birth: Referring Doctor? (Name, telephone number and address) Chief Complaint: Why have you come here? How did it start? What are the symptoms?

More information

Student Outline. Improving Transportation Safety: Commercial Driver Medical Examiner Training CHAPTER 1. General FMCSA Information

Student Outline. Improving Transportation Safety: Commercial Driver Medical Examiner Training CHAPTER 1. General FMCSA Information Student Outline CHAPTER 1 General FMCSA Information FMCSA Mission Statement / Dedicated to Safety / NRCME Important Definitions Regulations Vs. Medical Guidelines Privacy and the Medical Examination 13

More information

Lab Activity Report: Mendelian Genetics - Genetic Disorders

Lab Activity Report: Mendelian Genetics - Genetic Disorders Name Date Period Lab Activity Report: Mendelian Genetics - Genetic Disorders Background: Sometimes genetic disorders are caused by mutations to normal genes. When the mutation has been in the population

More information

Lecture 8 Cardiovascular Health Lecture 8 1. Introduction 2. Cardiovascular Health 3. Stroke 4. Contributing Factors

Lecture 8 Cardiovascular Health Lecture 8 1. Introduction 2. Cardiovascular Health 3. Stroke 4. Contributing Factors Lecture 8 Cardiovascular Health 1 Lecture 8 1. Introduction 2. Cardiovascular Health 3. Stroke 4. Contributing Factors 1 Human Health: What s Killing Us? Health in America Health is the U.S Average life

More information