23andMe Reports GENETIC HEALTH RISK REPORTS. Increased risk for breast and ovarian cancer. function
|
|
- Ginger Charles
- 5 years ago
- Views:
Transcription
1 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 Hereditary Hemochromatosis (HFE Related) Hereditary Thrombophilia Increased risk for breast and ovarian cancer Memory loss and impaired mental function nervous system disorder affecting the motor system Vision loss Lung and liver disease disease of small intestine and gluten intolerance red cell blood disorder that can cause anemia in men Iron overload disorder Increased risk of blood clots Wellness Alcohol Flush Reaction Caffeine Consumption Deep Sleep Genetic Weight Lactose Intolerance Muscle Composition Saturated Fat and Weight Sleep Movement
2 2 Ability to Match Musical Pitch Asparagus Odor Detection Back Hair Bald Spot Bitter Taste Cheek Dimples Cilantro Taste Aversion Cleft Chin Earlobe Type Early Hair Loss Earwax Type Eye Color Fear of Heights Finger Length Ratio TRAITS Freckles Hair Photobleaching Hair Thickness Light or Dark Hair Misophonia Newborn Hair Photic Sneeze Reflex Red Hair Sweet vs. Salty Skin Pigmentation Toe Length Ratio Unibrow Wake-Up Time Widow's Peak
3 3 ARSACS Andermann syndrome Agenesis of the Corpus Callosum with Peripheral Neuropathy Autosomal recessive polycystic kidney disease Beta Thalassemia and Related Hemoglobinopathies Bloom Syndrome Canavan or Bertrand Disease Congenital Disorder of Glycosylation Type 1a (PMM2- CDG) Cystic Fibrosis D-Bifunctional Protein Deficiency Dihydrolipoamide Dehydrogenase Deficiency Familial Dysautonomia or Riley- Day Syndrome Familial Hyperinsulinism (ABCC8-Related) Fanconi Anemia Group C GRACILE Syndrome or Fellman Disease GENE DISORDERS-CARRIER Lack of coordination and balance resulting in frequent falls Weak and wasting muscles, abnormal reflexes, and loss of sensations in limbs Abnormal kidney and liver Kidney cysts Sickle cell anemia Short Stature High cancer risk Damages nerve cells in brain and causes intellectual disability and loss of motor skills Metabolic disorder and malfunction of nervous system, muscles and intestines Difficulty breathing and coughing up mucus Unable to break down fats in diet, causing neuro Metabolic disorder Affects the nervous system Insensitivity to pain/no tears/ Problems with speech and swallowing Hyperinsulinism Insulin dysregulation Malfunction of bone marrow causing pre-leukemia and leukemia and other cancers Growth retardation, amino acids in the urine, iron overload, early Sardinian, Cypriot, Italian/Siilian, Greek Dannish Ashkenzi Jews, Northern Europe Hispanic & Latino Finnish and Saudi Arabian descent Ashkenazi Jew Finnish death Gaucher Disease Type 1 Liver and spleen involvement Swedes from Norrbotten
4 4 Glycogen Storage Disease Type Ia or Andersen Disease Glycogen Storage Disease Type Ib Hereditary Fructose Intolerance Herlitz Junctional Epidermolysis Bullosa (LAMB3-Related) Leigh Syndrome, French Canadian Type Dystrophy Type 2D Results pending Dystrophy Type 2E Dystrophy Type 2I MCAD Deficiency Maple Syrup Urine Disease Type 1B Mucolipidosis Type IV Neuronal Ceroid Lipofuscinosis (CLN5-Related) Batten Disease Neuronal Ceroid Lipofuscinosis (PPT1-Related) Niemann-Pick Disease Type A Nijmegen Breakage Syndrome Berlin Breakage Syndrome Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2- Related) Pendred Syndrome and DFNB4 Hearing Loss (SLC26A4- Related) Phenylketonuria and Related Disorders Primary Hyperoxaluria Type 2 Rhizomelic Chondrodysplasia Punctata Type 1 Deficiency of a liver enzyme leading to hypoglycemia intellectual disability Body cannot break down complex sugar Intolerance of fructose, sucrose, and sorbitol Skin disorder- fragile with blistering and skin erosion Affects the central nervous system- lesions in the brain Body cannot break down fats Hypoglycemai Metabolic disorder- Urine smells like maple syrup. Cannot process proteins Intellectual and motor disabilities Severe vision loss Nervous system disorder- vision, movement and thinking. Build up of fats and proteins Nervous system disorder- vision, movement and thinking. Build up of fats and proteins Harmful fatty lipids accumulate in the spleen, liver, lungs, brain and bone marrow Short stature and small head (microcephaly) Intellectual disabilities, higher risk of cancer Hearing loss and deafness Congenital inner ear hearing loss and low thyroid function Mexican, Chinese, and Japanese descent European Descent Amish Northern European Descent West Slavic descent- Poland, European Descent North European
5 5 Salla Disease Sickle Cell Anemia Sjögren-Larsson Syndrome Tay-Sachs Disease Tyrosinemia Type I Usher Syndrome Type 1F Usher Syndrome Type 3A Zellweger Syndrome Spectrum (PEX1-Related) Finnish, Swedish descent African American and African Descent Swedish Ashkenazi Jew, Cajun Descent
NutraHacker. Carrier and Drug Response Report for Customer: b2b0b618-db91-447c-9470-ff7b79ae147d. Instructions:
NutraHacker Carrier and Drug Response Report for Customer: b2b0b618-db91-447c-9470-ff7b79ae147d Instructions: In this report, NutraHacker examines single nucleotide polymorphisms that reveal carrier status
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 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 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 information23andMe Personal Genome Service (PGS) Carrier Status Tests Package Insert
Table of contents Intended Use Important warnings and limitations Test performance User studies Specific test information 23andMe Personal Genome Service (PGS) Carrier Status Tests Package Insert For in-vitro
More informationArchived Reports Summary
Archived Reports Summary 1 Archived Reports Summary This summary provides information that may be helpful when viewing your archived reports. The information in this document and in your reports is intended
More information23andMe Personal Genome Service (PGS) Carrier Status Tests Package Insert
Table of contents Intended Use Important warnings and limitations Test performance User studies Specific test information 23andMe Personal Genome Service (PGS) Carrier Status Tests Package Insert For in-vitro
More informationPATIENT EDUCATION. carrier screening INFORMATION
PATIENT EDUCATION carrier screening INFORMATION carrier screening AT A GLANCE Why is carrier screening recommended? Carrier screening is one of many tests that can help provide information to you and your
More informationQUESTION. 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 informationForesight Carrier Screen
4915 25th Ave NE, Suite 204W Seattle, WA 98105 Phone: (206) 588-1484 Fax: (206) 466-4696 Sample Type: EDTA Blood Date of Collection: 09/20/2017 Date Received: 09/22/2017 Date Tested: 09/27/2017 Indication:
More informationGenomics in Primary Care: The Promise of Personalized Medicine
Lehigh Valley Health Network LVHN Scholarly Works Department of Family Medicine Genomics in Primary Care: The Promise of Personalized Medicine Heather B. Fagan MD, MPH Brian Stello MD Lehigh Valley Health
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 informationForesight Carrier Screen
4915 25th Ave NE, Suite 204W Seattle, WA 98105 Phone: (206) 588-1484 Fax: (206) 466-4696 Sample Type: EDTA Blood Date of Collection: 08/17/2017 Date Received: 08/18/2017 Date Tested: 08/24/2017 Indication:
More informationHEREDITARY METABOLIC DISEASES
HEREDITARY METABOLIC DISEASES Particular risk factors are: Advanced maternal age (e.g. Down's syndrome) Family history of inherited diseases (e.g. fragile X syndrome, Huntington's chorea) Previous child
More informationGenetic Testing FOR DISEASES OF INCREASED FREQUENCY IN THE ASHKENAZI JEWISH POPULATION
Carrier Screening and Diagnostic Testing for the Ashkenazi Jewish Population Genetic Testing FOR DISEASES OF INCREASED FREQUENCY IN THE ASHKENAZI JEWISH POPULATION Our Science. Your Care. An extensive
More informationWhat is New in Genetic Testing. Steven D. Shapiro MS, DMD, MD
What is New in Genetic Testing Steven D. Shapiro MS, DMD, MD 18th Annual Primary Care Symposium Financial and Commercial Disclosure I have a no financial or commercial interest in my presentation. 2 Genetic
More informationShould Universal Carrier Screening be Universal?
Should Universal Carrier Screening be Universal? Disclosures Research funding from Natera Mary E Norton MD University of California, San Francisco Antepartum and Intrapartum Management June 15, 2017 Burden
More informationPreconception/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 informationPedigree. Tracking Genetic Traits: How it s done!
Pedigree Tracking Genetic Traits: How it s done! REVIEW Many traits in humans are controlled by genes. Some of these traits are common features like eye color, straight or curly hair, baldness, attached
More informationCLINICAL AND HUMAN TESTING
CLINICAL AND HUMAN TESTING CARRIER SCREENING FOR FAMILY PLANNING Let knowledge be your guide. Identify genetic conditions before or during a pregnancy to help predict the chances of having a child with
More informationFamily Prep Screen POSITIVE: HIGH REPRODUCTIVE RISK. Cystic Fibrosis
123 Main Street Houston, TX 10231 Phone: (800) 555-1212 Fax: (800) 555-1212 FE Sample Type: OG-510 Saliva Date of Collection: 07/08/2014 Date Received: 07/13/2014 Date Tested: 07/13/2014 Indication: No
More informationForesight Carrier Screen
4915 25th Ave NE, Suite 204W Seattle, WA 98105 Phone: (206) 588-1484 Fax: (206) 466-4696 Sample Type: EDTA Blood Date of Collection: Date Received: 02/19/2018 Date Tested: 02/26/2018 Accession ID: CSL3P6DMJ324JJ4
More informationGENETIC TESTING AND COUNSELING FOR HERITABLE DISORDERS
Status Active Medical and Behavioral Health Policy Section: Laboratory Policy Number: VI-09 Effective Date: 03/17/2014 Blue Cross and Blue Shield of Minnesota medical policies do not imply that members
More informationGenetic 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 informationEMBRYO DONOR FAMILY INFORMATION
EMBRYO DONOR FAMILY INFORMATION Please type or use black ink for the information on this sheet so the adoptive family may have some insight into the background of the child that may result from your frozen
More informationForesight Carrier Screen
321 Main Street San Francisco, CA 94080 Phone: (415) 555-5555 Fax: (415) 555-5555 FE Sample Type: OG-510 Saliva Date of Collection: 07/12/2017 Date Received: 07/17/2017 Date Tested: 07/17/2017 Indication:
More informationForesight Carrier Screen
321 Main Street San Francisco, CA 94080 Phone: (415) 555-5555 Fax: (415) 555-5555 FE Sample Type: OG-510 Saliva Date of Collection: 06/23/2017 Date Received: 06/28/2017 Date Tested: 06/28/2017 Indication:
More informationPREDICAGEN LLC REPORT
The report below is a scientific interpretation of the DNA variants (referred as RS numbers) to the customer by a third party (for example 23andMe). The report should not be considered exclusive, because
More informationJOHN DOE JANE DOE. Reproductive Risk Summary. Counsyl Test Results Summary
Results Recipient University Medical Center 827 Attn: Dr. Paul Smith 123 Main Street Houston, TX 10231 Phone: (800) 555-1212 Fax: (800) 555-1212 NPI: 7834324983 Report Date: 09/09/2013 Female Ethnicity:
More informationGenetic 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 informationHuman Genetic Diseases (Ch. 15)
Human Genetic Diseases (Ch. 15) 1 2 2006-2007 3 4 5 6 Genetic counseling Pedigrees can help us understand the past & predict the future Thousands of genetic disorders are inherited as simple recessive
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 informationORIGINAL RESEARCH ARTICLE
American College of Medical Genetics and Genomics Open An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals
More informationRelated Policies None
Medical Policy MP 2.04.107 BCBSA Ref. Policy: 2.04.107 Last Review: 04/30/2018 Effective Date: 04/30/0218 Section: Medicine Related Policies None DISCLAIMER Our medical policies are designed for informational
More informationOriginal Policy Date
MP 2.04.76 Genetic Counseling Medical Policy Section Medicine Issue 12:2013 Original Policy Date 12:2013 Last Review Status/Date Created Local Policy/ 12:2013 Return to Medical Policy Index Disclaimer
More informationNOTES: : HUMAN HEREDITY
NOTES: 14.1-14.2: HUMAN HEREDITY Human Genes: The human genome is the complete set of genetic information -it determines characteristics such as eye color and how proteins function within cells Recessive
More informationExpanded Carrier Screening: What s Best?
Expanded Carrier Screening: What s Best? James D Goldberg, MD September 17, 2017 Disclosures James D. Goldberg, M.D. Chief Medical Officer, Counsyl 3 Learning Objectives Guidelines Data Design Practice
More informationResults Recipient Ordering Healthcare Professional Male Details Female Details
Results Recipient Ordering Healthcare Professional Male Details Details Report Date /2010 Attn: Jessica Jacobson, MD Counsyl, Inc. 2200 Bridge Parkway, Suite 103 Redwood City, CA 94065 Phone: 1-888-COUNSYL
More informationNewborn Screening: Blood Spot Disorders
Newborn Screening: Blood Spot Disorders Arizona s Newborn Screening Program Program Overview Panel of Disorders Disorder Descriptions Program Components Hospitals ADHS Lab ADHS Follow-up ADHS Billing Medical
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 informationCorporate Medical Policy
Corporate Medical Policy Carrier Screening for Genetic Disease File Name: Origination: Last CAP Review: Next CAP Review: Last Review: carrier_screening_for_genetic_disease 12/2013 7/2017 7/2018 7/2017
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 informationWhat is the Experience of Family Physicians Regarding Patient s Clinical Genetic Questions?
What is the Experience of Family Physicians Regarding Patient s Clinical Genetic Questions? Rick Kellerman, MD, John Dorsch, MD, Doug Woolley, MD, MPH, Terry Ast, BA Department of Family and Community
More informationGenetic. Disorders. Inheritance of Genetic Traits
Genetic Disorders Inheritance of Genetic Traits Brief History First there was Gregor Mendel, a monk who studied inherited characteristics. This was followed by Francis crick and James Watson who unraveled
More informationForesight Carrier Screen
321 Main Street San Francisco, CA 94080 Phone: (415) 555-5555 Fax: (415) 555-5555 FE Sample Type: EDTA Blood Date of Collection: 07/12/2017 Date Received: 07/17/2017 Date Tested: 07/17/2017 Indication:
More informationHuman Genetic Diseases. AP Biology
Human Genetic Diseases 1 3 4 2 5 2006-2007 6 Pedigree analysis n Pedigree analysis reveals Mendelian patterns in human inheritance u data mapped on a family tree = male = female = male w/ trait = female
More informationCarrier Screening for Genetic Diseases
Medical Policy Manual Genetic Testing, Policy No. 81 Carrier Screening for Genetic Diseases Next Review: September 2018 Last Review: December 2017 Effective: January 1, 2018 IMPORTANT REMINDER Medical
More informationHuman Genetic Diseases. AP Biology
Human Genetic Diseases 1 2 2006-2007 3 4 5 6 Pedigree analysis Pedigree analysis reveals Mendelian patterns in human inheritance data mapped on a family tree = male = female = male w/ trait = female w/
More informationEGG DONOR PROFILE FORM Date Initials
Height Weight Eye color Hair color Special Talents / Skills Ethnic Background Mother Father Religion born into Mother Father Blood Type Picture goes here Year of Birth Racial Group: Caucasian Place of
More informationCMS will not implement the new tier codes for Medicare/Medicaid claims for calendar year 2012.
January 1, 2012 Re: 2012 AMA CPT Code Changes Dear Valued Client: The American Medical Association (AMA) has made Current Procedural Terminology (CPT) code changes to the 2012 edition of the CPT coding
More informationGenomics and Genetics in Healthcare. By Mary Knutson, RN, MSN
Genomics and Genetics in Healthcare By Mary Knutson, RN, MSN Clinical Objectives Understand the importance of genomics to provide effective nursing care Integrate genetic knowledge and skills into nursing
More informationEVOLVE CARRIER GENETIC SCREENS. Better health for generations to come! Be Proactive. SCREEN TODAY. PROTECT TOMORROW.
EVOLVE CARRIER GENETIC SCREENS Better health for generations to come! Be Proactive. SCREEN TODAY. PROTECT TOMORROW. PROTECT THE HEALTH OF YOUR FUTURE CHILDREN BY KNOWING YOUR GENETIC RISKS, TODAY! Carrier
More informationSymptoms Common symptoms that result from untreated biotinidase deficiency are listed in below:
N ewborn screening tests are available to identify those babies who have specific conditions that put them at risk of health problems. Depending on where you live certain tests may be carried out routinely
More informationCourse :Medical Genetics Inheritance of Genetic Traits
Course :Medical Genetics Inheritance of Genetic Traits Dr. K. Premkumar Associate Professor Dept of Biomedical Science Bharathidasan University History Gregor Mendel, a monk who studied inherited characteristics.
More informationIN-VITRO FERTILIZATION WITH DONATED OOCYTES COMPREHENSIVE HISTORY OF RECIPIENT COUPLE (HUSBAND)
Personal History Name Date of Birth Home Address Home Phone Work Phone Type of Employment Social Security # Medical Insurance Marital Status Religion Highest education degree (high school, college, graduate
More informationCarrierMap. Genetic Counseling. Technology TABLE OF. Sample Report CONTENTS. New Offerings. Recombine Facts. Disease List
Recombine 2 CarrierMap 4 Genetic Counseling TABLE OF CONTENTS 8 12 14 Technology Sample Report New Offerings 18 Recombine Facts 19 Disease List CARRIERMA ROVIDES COMLETE We help families have healthy children
More informationUnifactorial 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 informationEssential Questions. Basic Patterns of Human Inheritance. Copyright McGraw-Hill Education
Essential Questions How can genetic patterns be analyzed to determine dominant or recessive inheritance patterns? What are examples of dominant and recessive disorders? How can human pedigrees be constructed
More informationINITIAL DONOR PROFILE FORM
INITIAL DONOR PROFILE FORM Hello and thank you, in advance, for taking the time to fill out your Golden Egg Donor Profile. It may seem like a lot of questions, but it goes by rather quickly. We need all
More informationAssessing the follow-up of BART hemoglobin reported by the Wisconsin Newborn Screening Laboratory
Assessing the follow-up of BART hemoglobin reported by the Wisconsin Newborn Screening Laboratory Bao Yang MPH Candidate Background The Wisconsin Newborn Screening (NBS) Laboratory screens 70,000 babies
More informationDonor xytex.com
Donor 5472 Information displayed in this profile is provided by the donor. Blank fields are intentional and indicate that the information is not available. xytex.com info@xytex.com 706-733-0130 General
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 informationThe Counsyl Foresight Carrier Screen
The Counsyl Foresight Carrier Screen 180 Kimball Way South San Francisco, CA 94080 www.counsyl.com contact@counsyl.com (888) COUNSYL The Counsyl Foresight Carrier Screen - Disease Reference Book 11-beta-hydroxylase-deficient
More informationUNDERSTANDING TYPE 2 DIABETES
1 UNDERSTANDING TYPE 2 DIABETES PUTTING IT INTO REMISSION WITH A LOW-CARB HIGH-FAT DIET Jacqueline A. Eberstein, R.N. Director of Protocol, HEALcare The Scope of the Challenge 2 The People The Scope of
More informationReview Packet for Genetics and Meiosis
Name: Date: Block: 1 Review Packet for Genetics and Meiosis Directions: Answer the questions and where indicated, draw a Punnett square and show all work! 1. Who was Gregor Mendel? Where did he live and
More informationChapter 28 Modern Mendelian Genetics
Chapter 28 Modern Mendelian Genetics (I) Gene-Chromosome Theory Genes exist in a linear fashion on chromosomes Two genes associated with a specific characteristic are known as alleles and are located on
More informationInfertility History Form
Date form completed: Infertility History Form Patient s name: _ Age: Date of Birth: Occupation: Partner s name: Age: Date of Birth: Occupation: Prior marriage: Yes No # Prior marriage: Yes No # Attempted
More informationhelpful guide Carrier Testing for Common Genetic Diseases Hemoglobinopathies Cystic Fibrosis Spinal Muscular Atrophy Fragile X
A helpful guide to Carrier Testing for Common Genetic Diseases Hemoglobinopathies Cystic Fibrosis Spinal Muscular Atrophy Fragile X Joseph Adashek, M.D., FACOG Paul T. Wilkes, M.D., FACOG Van R. Bohman,
More informationForesight Carrier Screen
Freiburg Medical Laboratory, ME LLC Box 3068 Dubai, 00000 Phone: +971 4 396 2227 FE Sample Type: EDTA Blood Date of Collection: 04/23/2018 Date Received: 04/27/2018 Date Tested: 05/05/2018 Indication:
More informationFriday, January 4. Bell Work:
Friday, January 4 Bell Work: Red green colorblindness is an X linked trait and is recessive. A male who is normal marries a woman who is a carrier, what is the phenotypic ratio of their offspring? 1 Genetic
More informationHuman 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 informationGene 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 informationMetabolic Disorders Screened Overseas but not Screened in Australia Condition Features Inherited Diagnosis Treatment Newborn Screen
Metabolic Disorders ed Overseas but not ed in Australia Biotinidase Deficiency Severe form causes seizures & delay Biotin can prevent complications NZ, USA Tyrosinaemia Type I Coma & death before age 10
More informationBasic Patterns of Human Inheritance. Reading Preview. Recessive Genetic Disorders. Essential Questions
4.2.a Basic Patterns of Human Inheritance The inheritance of a trait over several generations can be shown in a pedigree. Real-World Reading Link Knowing a purebred dog s ancestry can help the owner know
More informationGenetic screening. Martin Delatycki
7 Genetic screening Martin Delatycki Case study 1 Vanessa and John are planning a family. They see their general practitioner and ask whether they should have any tests prior to falling pregnant to maximise
More informationPLEASE 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 informationBIO113 Exam 2 Ch 4, 10, 13
BIO113 Exam 2 Ch 4, 10, 13 See course outline for specific reading assignments Study notes and focus on terms and concepts The images in the textbook are useful CELLS (pg. 37) The basic unit of life living
More informationdisease carrier status PANEL DETAILS VERSION Risk Details JANE MILLER JOHN MILLER NEGATIVE CARRIER * NEGATIVE MILD CONDITION NEGATIVE
123 Main Street City, CA 10231 Phone: (800) 555-1212 Fax: (800) 555-1212 FE Sample Type: EDTA Blood Date of Collection: 02/06/2014 Date Received: 02/16/2014 Date Tested: 02/16/2014 Indication: Screening
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 informationHealth and Wellness for all Arizonans. azdhs.gov
To identify newborns with certain, rare disorders and assist families of affected infants so that they receive appropriate and timely treatment to prevent or delay serious medical problems. To identify
More informationPatient Intake Form for Allegany Ear, Nose, & Throat
Patient Intake Form for Allegany Ear, se, & Throat Patient Name: What brings you to the office today? Who is your primary care doctor? Please list your current medications: Are you allergic to any medications?
More informationProteins. 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 informationPatient s Name: Date: Gynecological and Fertility Histories. Menstrual History
Gynecological and Fertility Histories Menstrual History Menstrual cycle pattern (check all that apply): Regular periods Irregular periods Spotting before periods Age of first period Light flow Heavy flow
More informationGenetic Disorders. Students must provide an explanation for all problems. Students must have parent signature prior to submission.
Name: Date: Students must provide an explanation for all problems. Students must have parent signature prior to submission. 1. A human hereditary disorder that may result in mental retardation is 1. A.
More informationOn the Road to Good Health
On the Road to Good Health You re in the Driver s Seat Funded by: Illinois Department of Public Health 2016 MENS HEALTH BROCHURE_gs.indd 1 3/11/16 1:15 PM Facts About Men s Health Men are 24% less likely
More informationMacular Cherry-Red Spots: Causes and Consequences
Macular Cherry-Red Spots: Causes and Consequences 2018 Victoria Conference James Kundart OD MEd FAAO FCOVD-A Pacific University College of Optometry Financial Disclosures: Nothing to Disclose Learning
More informationPreferred language: PATIENT INFORMATION. Date of birth (dd/mm/yyyy): Age: Sex: Male Female. City: State: Country: Zip code:
ADULT INTAKE QUESTIONNAIRE Please fill out this form as completely as possible. This information will help us to better assess whether you are a good candidate for the program. Today s date (dd/mm/yyyy):
More informationHuman 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 informationCENTRAL CARE POLICY SYMPTOMS OF ILLNESS. Policy: Consumers will be observed for symptoms of physical problems, distress, pain, or unusual behaviors.
Page 1 of 5 CENTRAL CARE POLICY SYMPTOMS OF ILLNESS SUBJECT: SYMPTOMS OF ILLNESS ANNUAL REVIEW MONTH: June RESPONSIBLE FOR REVIEW: Director of Central Care LAST REVISION DATE: June 2009 Policy: Consumers
More informationSection Objectives: Pedigrees illustrate inheritance. Pedigrees illustrate inheritance
What You ll Learn You will compare the inheritance of recessive and dominant traits in humans. You will analyze the inheritance patterns of traits with incomplete dominance and codominance. You will determine
More informationAFL NSW/ACT Exemption & Dispensation Policy
AFL NSW/ACT Exemption & Dispensation Policy Last reviewed 14 May 2012. AFL NSW/ACT s policy is that age exceptions and/or dispensations will only exist in cases of disability These exemptions require approval
More informationSperm Donor Profile. Asian American Indian African American/Black. Caucasian/White East Indian Latino/Hispanic
Sperm Donor Profile This packet is for informational purposes. All the questions have been answered by the donor and are unaltered with exception to the staff impressions, genetic screening results, and
More informationJ. Van Lier Ribbink, M.D., F.A.C.S. Center for Endocrine and Pancreas Surgery at Honor Health
J. Van Lier Ribbink, M.D., F.A.C.S. Center for Endocrine and Pancreas Surgery at Honor Health Patient Clinical Information Questionnaire 1.0 Date of Questionnaire Completion; / / 2.0 Patient Data 2.1 Name:
More informationSummary. Syndromic versus Etiologic. Definitions. Why does it matter? ASD=autism
Summary It is becoming clear that multiple genes with complex interactions underlie autism spectrum (ASD). A small subset of people with ASD, however, actually suffer from rare single-gene Important to
More informationAtrophy. Dystrophy. II. practical training 2 rd year Dentistry. Lucie Tučková
Atrophy. Dystrophy. II. practical training 2 rd year Dentistry Lucie Tučková Atrophy Decrease in size of the cell or organ Reduction in cell size and/or cell number, or both Atrophic cells may have diminished
More informationSenses Other Than Vision. Hearing (Audition) Transmission of Vibrations
Senses Other Than Vision Hearing The Kinesthetic Senses Touch The Chemical Senses Hearing (Audition) Sound begins as pressure waves in a medium (usually air). The frequency of the pressure waves corresponds
More informationSAMPLE. Carrier Screening Results Report v2.2 Page 1/8
MM480: Pan-Ethnic Carrier Screen - Targeted Mutation Panel Report Prepared For: Patient: Name: Date of Birth: IDs (Internal / External): Reported Gender: Reported Ethnicity: Sample: Sample Collection Date:
More informationHuman 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 informationMetabolic Liver Disease
Metabolic Liver Disease Peter Eichenseer, MD No relationships to disclose. Outline Overview Alpha-1 antitrypsin deficiency Wilson s disease Hereditary hemochromatosis Pathophysiology Clinical features
More informationAll 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