41. Q&A About DNA Testing Who should have (dna) testing? Anyone who wants to clarify their personal risksfor VHL. Am I being a responsible parent by delaying gene testing? http://www.vhl.org/newsletter/vhl2000/00daqdna.htm

Basic Facts About VHL Managing Your Health Information for Health Care Professionals Research ... Press Room Families, Friends, Physicians, Researchers working together to improve diagnosis, treatment, quality of life for people affected by von Hippel-Lindau disease. by Vicki Couch, Genetic Counselor, Mayo Clinic, Rochester, Minnesota. From her talk at the Symposium I was asked to organize my talk around the questions that are frequently asked of the people who staff the VHLFA hotline number. I would like to thank the 800 hotline volunteers for compiling this list of questions. Altheada Johnson, Eva Logan, Peggy Marshall, Barbara Redding. First I would like to do a quick review of some genetic concepts. We all have 46 chromosomes in every cell, and these contain all our genes. These are all in pairs, one chromosome in each pair comes from our mother, and the other from our father. And we each are estimated to have somewhere in the ballpark of 50,000 to 80,000 genes in total, so each chromosome has hundreds or even thousands of genes on its length, like beads on a string, lined up along the chromosome, next to one another. The function of genes is typically to produce a protein, or a protein sub-unit, that has some important cell function in the cell, that will affect its growth or activity in one way or another. Myths Someone who has two unaffected children might be led to believe that they no longer have to worry about VHL. "It h

42. The Success Story Of Gene Tests The Success Story of gene Tests. After 30 years, the TaySachs screening program This would be the largest and most ambitious (dna) testing program ever. http://www.genomenewsnetwork.org/articles/08_01/Tay_Sachs_gene_tests.shtml

Home About Topics The Success Story of Gene Tests After 30 years, the Tay-Sachs screening program has lessons to share By Julie Buckles August 20, 2001 Sex, money and children are the kinds of issues young couples deal with. In his premarital counseling sessions, Rabbi Julian Cook raises another: testing for Tay-Sachs disease. View larger "It doesn't take up a lot of our conversation," says Cook, of the Central Synagogue of Nassau County in New York. "But because we are a special population, my role is to impress upon Jewish couples of childbearing age the importance of being tested." In Jewish communities around the world, couples are urged to take the Tay-Sachs blood test before deciding to have children. Now 30 years old, carrier screening for Tay-Sachs is the longest-running, population-based program designed to prevent a lethal genetic disease. Screening has reduced the number of Tay-Sachs cases in the U.S. and Canada by 90 percent. "This is

43. Gene Testing And gene testing already is widespread in other areas Wilkins for discoveringthe structure of (dna) today s gene research holds great promise. http://www.cc.utah.edu/~cla6202/Gene.htm

Should You Consider Gene Testing? by Earl Ubell NOTE from Webmaster Curtis. L. Atkin (August 31, 1999) : This article originally appeared on pages 8-9 of the January 12, 1997, issue of PARADE, the Sunday Newspaper Magazine Parade Family Health Companion (Prima Publishing). Are you or your children likely to get cancer? Cystic fibrosis? Alzheimer's disease? Genetic research is giving us a way to know if you care to. IT'S HARD TO BELIEVE. Scientists can now read your future in a drop of blood, a globule smaller than a pea. That information comes from new methods of testing genes that reveal your chances of getting certain kinds of cancer, cystic fibrosis and more than 70 other ailments. In the works are tests for heart disease, diabetes, Parkinson's, Alzheimer's and dozens more illnesses. Most tests are still in the research stage, offered mainly at universities and medical-research institutions. Candidates may be eligible only if they meet certain criteria (a close family history of the disease, for example). Recently, though, biotech companies came out with a test for inherited forms of breast and ovarian cancers. And gene testing already is widespread in other areas: Prenatal diagnosis. Prospective parents can be screened to find out if their child would carry a genetic disorder for a disease like cystic fibrosis. They may then consider adoption or in vitro fertilization, which allows doctors to implant an embryo without the abnormal genes. Such tests also can be done for sickle-cell anemia, Huntington's disease and Tay-Sachs disease.

44. DNA Testing For Alport Syndrome DIRECT TEST FOR MUTATIONS IN THE COL4A5 gene Because of the complexities ofDNA testing it must be arranged through your physician or the Hereditary http://www.cc.utah.edu/~cla6202/DNA.htm

DNA DIAGNOSTIC TESTING FOR ALPORT SYNDROME DIRECT TEST FOR MUTATIONS IN THE COL4A5 GENE AND GENETIC LINKAGE TESTING DNA.htm Version of August 31, 1999 NOTE by Webmaster Curtis L. Atkin : The original version of this article appeared in the HNF Newsletter No. 24, March 1992 . I have here updated some addresses. Prospective clients should see the newer page DNA Diagnostic Lab Alport Syndrome , and also might well read both Should You Consider Gene Testing? and Understanding Gene Testing The University of Utah DNA Diagnostic Laboratory is now offering diagnostic testing for the hereditary kidney disease of Alport syndrome. This testing has recently become possible because of research at University of Utah, University of Oulu (Finland), and elsewhere to discover the abnormal genes which cause this disease. Testing is relatively expensive but is covered by many forms of health insurance. DNA tests can be used to diagnose "at risk" children that may show few or no signs or symptoms of Alport syndrome. Gene-carrier status may also be determined in asymptomatic adult females at risk, as well as in potential kidney donors within a family. DNA testing can even be performed before birth. For about 15% of families with Alport syndrome, a straightforward test called "Southern blotting" offers direct demonstration of abnormalities, or mutations, in the COL4A5 "Alport" gene on the X chromosome. This test requires blood samples from one or more persons.

45. Family Tree DNA - We Do Genetic Tests For Your Genealogy Questions! Family Tree (dna) offers (dna) testing for amateur and professional genealogists . What tests do you perform? What % of Jews carry the Cohanim gene? http://www.familytreedna.com/faq.html

PRICING PROJECTS TESTIMONIALS PRIVACY FAQ ABOUT HISTORY UNEARTHED DAILY Frequently asked questions Basic questions about DNA and Genealogy are answered in this page. For additional information and any other questions, please use our DNA and Genealogy Forum Testing my DNA?!? Are you nuts?!?! What is Family Tree DNA? Why would I want to take a genetic test? ... What is Family Tree DNA's refund policy? 1. What is Family Tree DNA? Our service is dedicated to helping genealogists find lost relatives when the paper trail ends and the brick wall takes its place. We use a painless cheek scraping to obtain DNA that can help accurately determine a relationship with either a 99.9% probability of YES or a 100% certainly that no near term relationship existed. 2. Why would I want to take a genetic test? Our service was created for the serious amateurs and the professional genealogists who wish to extend their family trees by confirming a link where no conventional source records exist. In some cases our tests can also be used to determine if a person is part of a larger group of people: for example, Jews will be able to confirm they are of Cohanim lineage. Our tests are also perfect for individuals who want to perform Surname-based family tree reconstruction projects.

46. Clinical Trial: Gene Testing To Help In The Diagnosis And Treatment Of Childhood gene testing to Help in the Diagnosis and Treatment of Childhood Brain Tumors Determine the chromosomal gains and losses by (dna) ploidy analysis and http://www.clinicaltrials.gov/ct/gui/show/NCT00003096

Home Search Browse Resources ... About Gene Testing to Help in the Diagnosis and Treatment of Childhood Brain Tumors This study is currently recruiting patients. Verified by National Cancer Institute (NCI) May 2004 Sponsors and Collaborators: Children's Oncology Group National Cancer Institute (NCI) Information provided by: National Cancer Institute (NCI) ClinicalTrials.gov Identifier: Purpose RATIONALE: Analyzing the number and structure of genes found in a child's cancer cells may help doctors improve methods of diagnosing and treating children with brain tumors. PURPOSE: This clinical trial is studying the number and structure of genes in cancer cells of children with brain tumors. Condition Intervention untreated childhood supratentorial primitive neuroectodermal tumors untreated childhood medulloblastoma Procedure: DNA ploidy analysis Procedure: comparative genomic analysis Procedure: cytogenetic analysis Procedure: fluorescent in situ hybridization (FISH) Procedure: genetic analysis MedlinePlus related topics: Brain Cancer Cancer Cancer Alternative Therapies Study Type: Interventional Study Design: Diagnostic Official Title: Molecular Biology of Pediatric Brain Tumors Further Study Details: OBJECTIVES: Determine the chromosomal gains and losses by DNA ploidy analysis and comparative genomic hybridization in patients with primitive neuroectodermal tumors or medulloblastomas.

47. FRAGILE X TESTING, DNA ANALYSIS SYNONYMS FMR1 gene Mutation Analysis, RFLP Analysis; TEST INCLUDES Southern blotanalysis using a polymorphic (dna) probe specific for the FMR-1 gene. http://www.healthsystem.virginia.edu/internet/labtests/clinical/f/fxdna.cfm

[ Skip Navigation ] Health System Home For Health Answers Healthcare Professionals ... Advanced Search Health System Search Search for Information People UVa Home Health System News Health System Events (all) Health System Publications ... Site Index Site Search Search this site: FRAGILE X TESTING, DNA ANALYSIS TEST CODE: FXDNA CPT CODE: SYNONYMS: FMR-1 Gene Mutation Analysis, RFLP Analysis TEST INCLUDES: Southern blot analysis using a polymorphic DNA probe specific for the FMR-1 gene. LABORATORY: Molecular Pathology SPECIMEN: Lavender Top (EDTA) MINIMUM VOLUME: 5 mL blood AVAILABILITY: By consultation only TURNAROUND TIME: 4 weeks SPECIAL INSTRUCTIONS: This test is appropriate for testing of affected individuals, carrier testing and prenatal diagnosis. Contact the Office of Clinical Laboratory Services (982-1898) or the Division of Clinical Genetics (924-2665). REFERENCE RANGE: Print this Page Email this Page UVa Medical Laboratories Handbook PO Box 800168 Charlottesville , VA 22908 fax: 434-982-1880 For comments and suggestions about this page: Webmaster Last Modified: April 28 2003 of the University of Virginia About This Site

48. HPCGG Clinical Services The diagnostic testing is based on tracking the gene through a family using testing Direct mutation testing involves a search for a specific (dna) http://www.hpcgg.org/Clinical/gene_test.jsp?name=clinical

49. DNA Paternity Testing Background When the gene fragment on a (dna) Parentage Test report is 2.34 kilo bases thatmeans the gene fragment consists of 2340 bases kilo base = 1000 bases. http://www.craigmedical.com/dna_paternity_techs.htm

Diagnostics Since 198 ...Wholesale Direct Prices on Home Health Diagnostic Test Kits... Alcohol and Drug of Abuse Screening, Pregnancy and Fertility Testing, General Health Diagnostics... Low Cost, Fast, Accurate and Confidential Diagnostic Health Solutions... DNA Paternity Testing Background and Technical Information What Are Genes? The human body consists of trillions of cells. Most of these cells have a nucleus, or center. The nucleus contains genes, the functional units of heredity. The genes are grouped into separate bundles called chromosomes. There are 46 chromosomes inside every cell in the body. Twenty-three of these chromosomes came from the biological mother and 23 came from the biological father. Chromosomes are named by a letter "D" followed by a number [i.e., chromosome #1 is named D1; and, chromosome #2 is named D2, etc.]. Genes are named by the chromosome number, and by the location that the genes occupy on the chromosome. A DNA Parentage Test report identifies the genes that were analyzed during the process of testing. When the results refer to D2S44, the gene analyzed was on chromosome #2 at locus 44. The Chemistry of Genes Twenty-six letters of the alphabet are the basic units of the English language. Words and sentences are formed from these 26 letters. Genes on the other hand are formed from only 4 chemicals, or bases. These bases are named: (1) adenine, (2) cytosine, and (3) guanine and (4) thymine. Like the letters of the alphabet that form sentences, these 4 bases form long gene fragments called deoxyribonucleic acid, abbreviated DNA. The length of the gene fragments can be determined by the number of bases these gene fragments contain. When the gene fragment on a DNA Parentage Test report is 2.34 kilo bases that means the gene fragment consists of 2,340 bases [kilo base = 1,000 bases].

50. Genetic Health - Colon Cancer: HNPCC - Microsatellite Instability Testing genetic testing for (dna) repair gene mutations may be necessary even if microsatelliteinstability testing is negative. http://www.genetichealth.com/CRC_HNPCC_Microsatellite_Instability_Testing.shtml

Home Learn Colon Cancer HNPCC: Microsatellite Instability Testing Conditions Alzheimer's Breast Cancer Colon Cancer Diabetes ... Ovarian Cancer Tools Medical Glossary Genetics 101 Overview of Genetics Inheritance Patterns DNA Mutations Changing Your Risk ... Inherited/Sporadic Cancer Genetic Testing The Testing Process Where Is Testing Done? Who Orders Genetic Tests? Costs of Genetic Testing Ethical Issues Genetic Information Genetic Discrimination Health Insurance Research Participation Types of Clinical Trials What Should I Know? From Gene To Cure List of Clinical Trials Resources Genetic Counseling Find a Genetic Counselor Find a Support Group Getting Medical Records ... Help for Birth Parents Awards "G enetic Health does more than hit just a home run — it's a grand slam in the bottom of the ninth to win the game ... one of the very best health-related sites we have ever had the pleasure to view." — Wally Gross, Surfers Choice Review Team

51. Project: Molecular Testing For Germline Mutations In DNA Mismatch Repair Genes: Project Molecular testing for germline mutations in (dna) mismatch repair genes However, MMRgene mutations can also be detected in individuals without http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1294082/toon

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: Molecular testing for germline mutations in DNA mismatch repair genes: towards improved criteria for patient selection and variant interpretation Print View Titel Moleculair testen op kiemlijn mutaties in DNA mismatch reparatiegenen: naar verbeterde criteria voor selectie van pati«nten en interpretatie van varianten Abstract Period Related organisations Financier: Dutch Cancer Society Secretariat: Department of Internal Medicine (RuG) Related persons Project leader: Dr. R.M.W. Hofstra Project leader: Prof.dr. J.H. Kleibeuker Project leader: Dr. R.H. Sijmons Classification second-line health care patients care genetics oncology ... internal medicine Data supplier: Website Nederlandse Kankerbestrijding Back NOD page Last modified: 16-10-2003 00:00

52. Lowe Syndrome - DNA Analysis Molecular genetic testing for the Lowe Syndrome OCRL1 gene is available at the Symptomatic males will be tested by automated fluorescent (dna) sequence http://www.bcmgeneticlabs.org/tests/dna/lowe.html

LOWE SYNDROME DNA ANALYSIS See also: Phosphatidylinositol-4,5- Bisphosphate Phosphatase - Biochemical Analysis Open Page in New Window Print This Page Return to Search The Oculo-Cerebro-Renal Syndrome of Lowe (OCRL) is a rare X-linked disorder characterized by congenital cataracts, neuromuscular hypotonia, mental retardation, infantile glaucoma in half of affected males, vitamin D-resistant rickets, and renal tubular dysfunction. Affected males have a mean IQ in the moderate mental retardation range, and most exhibit maladaptive behaviors. Heterozygote carrier females have distinctive mild "snowflake" lenticular opacities that are detectable by slit-lamp ocular examination after pupillary dilation. The Lowe Syndrome gene at chromosome Xq25-q26 is , which encodes a phosphatidylinositol 4,5 bisphosphate (PtdIns[4,5]P2) 5-phosphatase that has been localized to the trans-Golgi network. The complex phenotype of Lowe Syndrome is due to an inborn error of inositol phosphate metabolism, and diagnostic testing in affected males is available through biochemical enzyme analysis. Multiple mutations in the gene have been identified including missense and nonsense mutations, small deletions and insertions, and larger genomic deletions. The gene consists of 24 exons, of which 23 are coding. Approximately 97% of males with a definite clinical diagnosis of Lowe Syndrome have mutations identified in the

53. Log In Problems The use and interpretation of commercial APC gene testing for familial adenomatous It is found in the (dna) of about 90% of tumors from HNPCC patients. http://www.medscape.com/pages/sites/dnas/glossary/coloncancer

Unable to Deliver Requested Page In order to use Medscape, your browser must be set to accept cookies delivered by the Medscape site. To find out how to adjust your browser settings to accept cookies, please click here Medscape uses cookies to customize the site based on the information we collect at registration. The cookies contain no personally identifiable information and have no effect once you leave the Medscape site. You can read more about our use of cookies in our About Medscape Help WebMD Health

54. Your Genes, Your Choices Glossary (dna) marker A gene or other fragment of (dna) whose location in the genome is known ex utero genetic testing (dna) analysis performed on cells of eggs that http://cmbi.bjmu.edu.cn/www-learn/yourgene/Your Gene-8.htm

55. Lark Technologies :: Genetic Stability Testing, Dna Preparation, Rna Preparation Lark offers genetic stability testing to characterize Master Cell Banks (MCB), Lark provides nucleic acid analysis of viral and nonviral gene therapy http://www.lark.com/services/genetic_stability.html

Overview Technical Information Quote Request Genetic Stability Testing Lark offers genetic stability testing to characterize Master Cell Banks (MCB), Working Cell Banks (WCB), and End of Production Cells (EPC) from bacterial, yeast, and cell cultures. Genetic stability testing is used to analyze a production strain's stability. Specifically, it demonstrates that the expression system has not undergone any mutations or rearrangements that would affect the integrity of the product. Bacterial and Yeast Cell Banks Cell Culture Cell Banks Gene Therapy Products Genetically Modified Crop/Plant Analysis Services Bacterial and Yeast Cell Banks (return to top) Cell Culture Cell Banks (return to top) Lark provides sequence verification by direct analysis of RT-PCR fragments targeting the appropriate mRNA for the MCB as well as the WCB and EPC. Southern blot analysis is also performed to confirm the stability of chromosome inserted expression cassettes.

56. The History Of Gene Testing genetic testing began when Gregor Mendel discovered the structure of (dna)through his gene cloning began, providing researchers with (dna) for study. http://www.acad.swarthmore.edu/bio5/tong/Gene Basics/the_history_of_gene_testin.

The History of Genetic Testing: A Brief Timeline : The milestone of genetic testing began when Gregor Mendel discovered the structure of DNA through his pea-breeding experiments. Oswald Avery Colin MacLeod , and Maclyn McCarty of New York's Rockefeller Institute provided the first experimental evidence that DNA transmits genetic information. Oswald Avery: Source- NIH James Watson and Francis Crick discovered the chemical makeup of DNA and suggested the double helix model. Late 1960s : studies by Werner Arber, in Switzerland, and Hamilton Smith, at Johns Hopkins University. Smith showed that one of these enzym es cut the DNA at a specific short DNA sequence. This prompted the mapping of chromosomes , forming the basis for the assignment of a disease gene to a specific region on a particular human chromosome. By 1973 : researchers using restriction enzymes to cut specific DNA sequences of interest and join them to the DNA of bacteria. The bacteria then generated copies of the selected DNA with their own DNA each time they divided. Gene cloning began, providing researchers with DNA for study. Edward Southern, a Scottish scientist, developed

57. AMA (Genetics) Basic Genetics - FAQs gene testing involves examining a person’s (dna) for some anomaly that could causeor increase the risk for a disease or disorder. The (dna) usually is taken http://www.ama-assn.org/ama/pub/category/4646.html

DoctorFinder Join/Renew MyAMA Site Map ... Genetics Basic Genetics - FAQs e-mail story print story What are genetics and molecular medicine? How do genes work? ... What is the Human Genome Project? What are genetics and molecular medicine? While its practical implications are broad, genetics essentially is the study of how specific biological traits and characteristics are transmitted to us by our parents. Pharmacogenomics Top A cell is the individual unit from which tissues of the body are formed DNA is the double-stranded molecule that encodes genetic information in the nucleus of cells. A DNA strand is composed of four different nucleotides or base pairs (adenine, guanine, cytosine, and thymidine). It determines the structure, function and behavior of the cell. In animals and plants, long strands of DNA are arranged into structures called chromosomes Genes are sometimes known as the physical unit of heredity. Genes are formed from DNA, carried on the chromosomes and are responsible for the inherited characteristics that distinguish one individual from another. Each human individual has an estimated 30,000 separate genes. Chromosomes are the self-replicating genetic structures of cells. They contain the cellular DNA that bears in its nucleotide sequence the linear array of genes.

58. News@nature (dna) samples are destroyed immediately after testing and the team has gene tests don t measure the passion that makes players great, he says. http://www.nature.com/news/2005/050314/full/434260a.html

@import "/news/style.css"; nature.com homepage Jump to main content Jump to navigation ... Browse by subject Search This site All of nature.com Advanced search Home News Features ... Stories by subject NEWS CHANNELS My news Biotechnology Careers Drug discovery ... For librarians Rugby team converts to give gene tests a try This article is available in full to Premium plus subscribers With a Premium plus subscription you get full access to news@nature.com , the full archive back to 1998, the ability to personalise your own news page, and articles up to 2 weeks before they appear in print. Existing personal subscribers to Nature Nature Medicine Nature Biotechnology or Nature Reviews Drug Discovery now receive news@nature.com Premium Plus access free with their subscription. Simply login with your existing username and password. Get information on institutional site license access here Current premium plus subscribers Log in to view the article USERNAME PASSWORD Save password Forgotten password? Subscribe Get full article access Premium $ 7.99 per month (online only)

59. DNA Testing For Breeders By now today s breeders have heard about genetic testing, and (dna), What isa gene? (dna) (deoxyribonucleic acid) is a large molecule comprised of four http://www.canine-genetics.com/dnatest.htm

The Canine Diversity Project Genetic Testing: A Guide for Breeders by Mary Whiteley, Ph.D. By now today's breeders have heard about genetic testing, and DNA, but what is really involved in finding a mutation, and what do the results of the test mean? What is a gene? DNA (deoxyribonucleic acid) is a large molecule comprised of four basic units linked together in a long strand. If we assign each unit a letter, then we can envision the chromosome as a long string of letters. Genes can be thought of as long words scattered along the chromosome. These words have special meaning to the worker molecules in the cell, and encode a set of instructions as to what they are to build. Any mistake in a word scrambles the instructions, and either the workers in the cell make no product or a defective one is made. These mistakes in genes are known as mutations There are basically two kinds of mutations, dominant and recessive. Every cell in the body (except sperm and eggs) has two copies of each gene (one from the sire, and one from the dam). A dominant mutation is where one defective copy of a gene is enough to affect the individual, whereas a recessive mutation requires that both copies of the gene carry a mutation for the individual to be affected. How do scientists go about finding a mutation?

60. Christchurch School Of Medicine & Health Sciences, New Zealand The following conditions apply for gene testing. Where the (dna) analysis involvesscientific collaboration for the purpose of publication into a http://www.chmeds.ac.nz/research/retinoblastoma/

Research New Zealand Retinoblastoma Gene Testing Service Techniques Samples ... Home New Zealand Retinoblastoma Gene Testing Service Gene testing is a powerful tool to assist clinicians in deciding the best approach for managing children and family members who may be predisposed to retinoblastoma. We accept DNA samples from anywhere in the world, (see conditions below) and offer a fast and cost-competitive service. The following conditions apply for gene testing: Where the DNA analysis involves scientific collaboration for the purpose of publication into a peer-reviewed journal, DNA analysis will be carried out free of charge. If tumour DNA is made available along with peripheral blood DNA, then the cost of gene testing is US$400.00 per sample. Tumour DNA is currently being used for research but participation requires patient consent. The information sheet explaining the research is available only on request. For clearly heritable cases (see below) where no tumour DNA is available, the cost of gene testing is US$500.00 per sample, and US$75 per additional family member.

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