The Aim of C-MD

The major aim of the website of the Committee for Molecular Diagnostics (C-MD) of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) is to promote and disseminate information about the activities of the C-MD and to provide a focal point for laboratories, member societies, and industry groups for molecular diagnostics.

The Web-site also contains links to web-sites relevant to molecular diagnostics including genetic and molecular genetics societies, gene sequence and mutation databases, primer design sites, and a number of other molecular diagnostic utilities.

 

Disease Oriented Databases and Facilities

OMIM TM: A database of genes and genetic disorders developed the National Center for Biotechnology Information (NCBI). In includes links to numerous other resources including sequence records in the Entrez system. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

Disease and Locus Specific Databases: This Human Variation Society site contains links to numerous data bases including locus, disease, racial, mitochondrial, and clinical and patient databases. The list was compiled by the Genomic Disorders Research Centre. http://www.hgvs.org/dblist/dblist.html  

Human Mutation Database: A collation of published gene mutations and their association with disease. It also contains links to locus specific databases. http://www.hgmd.org/%20

GeneCards: GeneCardsTM is a database of human genes, the nature and functions of their encoded proteins, and disease associations. It is a user friendly site offering a quick overview of numerous aspects of genes, mutations, their expression in various tissues, and has links to publications. http://www.genecards.org 

 

Primary Nucleic Acid Databases

These databases contain primary sequence data often used by other web based programs and projects.

GenBank: http://www.ncbi.nlm.nih.gov/Genbank/index.html

EMBL Nucleotide DB: http://www.ebi.ac.uk/embl/index.html

DDBJ (DNA DataBase of Japan): http://www.ddbj.nig.ac.jp/ 

 

Other databases

NCBI dbSNP: An NCBI maintained database for single base nucleotide substitutions and short deletion or insertion polymorphisms. http://www.ncbi.nlm.nih.gov/projects/SNP/  (data accessed: 2013)

Human Genome Resources Database The following resource page contains numerous useful links including contacts in major genome centres, chromosome specific servers, some disease specific mutation databases, and bioinformatics/sequence analysis websites. http://www.ncbi.nlm.nih.gov/genome/guide/human/

HapMap: The home page for the HapMap, an international project aimed at developing a haplotype map of the human genome through collaboration by a number of academic, non-profit and academic research groups as well as private companies. Much of the data generated is accessible and its main utility is for research purposes. http://www.hapmap.org/   (data accessed: 2013)

 

Reference Materials

NIBSC (National Biological Standards Board): This is a UK based institute which distributes WHO biological standards.  The link connects to the A to Z catalogue for Virology which contains a limited number of nucleic acid standards and working reagents.  Instructions for use of particular materials can be downloaded from web pages for the specific materials. http://www.nibsc.org/

NIST (National Institute of Standards and Technology): This link connects to  the NIST's searchable database for reference materials, including a limited number of DNA reference materials. http://ts.nist.gov/ts/htdocs/230/232/232.htm

JCTLM (Joint Commission for Traceability in Laboratory Medicine): The JCTLM was established to provide a worldwide platform to promote internationally recognized and accepted equivalence of measurements in Laboratory Medicine and traceability to appropriate measurement standards. It is joint commitee of The International Committee of Weights and Mesures (CIPM), the (IFCC), and the International Laboratory Accreditation Cooperation (ILAC). One of its functions is to catalogue higher order reference materials from around the world.  While there are no nucleic acid standards currently catalogued, a number are anticipated soon and it is expected that the JCTLM will develop into a major database for reference materials for molecular diagnostics testing. http://www.bipm.fr/en/committees/jc/jctlm/  (data accessed: 2013)

 

Proficiency Testing

CAP (College of American Pathologists): This links to the CAP's proficiency testing program (Centers for Medicare & Medicaid Services (CMS) approved) for molecular diagnostics.  This particular page concerns accreditation issues.  To locate programs for molecular diagnostics, click on the"SURVEYS" Catalog or "Schedule of tests". http://www.cap.org/apps/cap.portal?_nfpb=true&_pageLabel=accreditation  (data accessed: 2013)

QCMD (Quality Control for Molecular Diagnostics): The QCMD is a pan European and umbrella organization for proficiency testing programs specializing in molecular diagnostics.  RMS is represented on an advisory board to this organization.  The site also contains a number of reports which can be downloaded. http://www.qcmd.org/Index2.htm (data accessed: 2013)

Centers for Disease Control (CDC) External Quality Assessment (EQA) Resources: This site lists resources for EQA programs and powerpoint presentations on http://wwwn.cdc.gov/mlp/eqa.aspx

EuroGenTest: This site contians links and information on several European molecular genetics proficiency testing programmes. http://www.eurogentest.org/cocoon/egtorg/web/info/unit1/molecular.xhtml  (data accessed: 2013)

 

Quality Control Materials & Panels

CoriellCell Repository: This is a commercial site which provides cell cultures and DNA relevant to numerous human molecular diagnostic tests. http://ccr.coriell.org/ (data accessed: 2006)

AcroMetrix: This is commercial site which specializes in designing controls and panels for molecular diagnostics. The company also offers a service for the manufacture of custom panels for  businesses. http://www.acrometrix.com/products.php

SeraCare (FormerlyBBI): This is a commercial site which provides quality control materials for molecular diagnostics. http://www.seracare.com/bbidx/bbi_diagnostics.htm 

Main Molecular Quality Controls: Company offers quality control material for genetics, pharmacogenetics, and infectious disease. http://www.mmqci.com/

Centers for Disease Control Reference Material website (GetRM): Describes various low order and high order materials that may be used for quality control. http://wwwn.cdc.gov/clia/Resources/GetRM/default.aspx

 

Programs

Bioinformation and Research Informatics at the Whitehead Institute:

Primer3, TargetScan, BaRC, siRNA design, Standard Operating Procedures, Educational Programs: PCR primer design from the Whitehead Institute for Biomedical Researchhttp://jura.wi.mit.edu/bio/

WatCut: An on-line tool for restriction analysis, silent mutation scanning, and SNP-RFLP analysis http://watcut.uwaterloo.ca/watcut/watcut/template.php

BLAST: A sequence retrieval/alignment tool. Compares nucleotide or amino acid sequences to those in public databases. http://www.ncbi.nlm.nih.gov/BLAST/ 

 

Standards & Guidelines

CLSI- Clinical and Laboratory StandardsInstitute (formerly NCCLS): The following link is for CLSI's Working Area Committees. It gives an overview of working/active projects as well as published documents. For published documents, follow the link to the GSC Regulatory and Standardization Documents site and the CLSI library. http://www.clsi.org

In addition, the following link in CLSI connects to the Harmonized Terminology Database. Use the following CLSI link to search for the definition of terms: http://login.clsi.org/HTDatabase.cfm

ACMG (American College of Medical Genetics): The ACMG has several technology guidelines for genetic testing (i.e. Factor V Leiden, Cystic Fibrosis).  The following URL links to a page which precedes the relevant documents.  You must read and accept the terms and conditions of use before proceeding to the relevant documents. https://www.acmg.net/

 

Laboratory and Genetic Services Directories

GeneTests: A directory of private and public diagnostic laboratories conducting molecular genetic testing. http://www.genetests.org/ (data accessed: 2006)

 

International Regulatory and Policy Documents

United Nations Economic and Social Council (ECOSOC), "Resolution 2004/9: Genetic Privacy and Non-Discrimination", Geneva , July 21, 2004 , http://www.genetests.org/ (data accessed: 2013)

UNESCO International Bioethics Committee (IBC), "The Tehran Statement", Tehran , March 28, 2005, http://portal.unesco.org/shs/en/file_download.php/6ae2882ee85eb422dc9467861ba60e53TehranStatement.pdf (data accessed: 2013)

World Health Organization (WHO), "Statement of the WHO Expert Consultation on New Developments in Human Genetics", Geneva , 2000, http://whqlibdoc.who.int/hq/1998/WHO_HGN_ETH_98.2.pdf (data accessed: 2013)

World Health Organization (WHO), "Statement of WHO Expert Advisory Group on Ethical Issues in Medical Genetics", Geneva , December 15 and 16, 1997. http://whqlibdoc.who.int/hq/1998/WHO_HGN_ETH_98.2.pdf (data accessed: 2013)  

 

International Guidelines and Reports

Association of Women's Health, Obstetric and Neonatal Nurses (AWHONN) -Various resources focusing on Women's health and neonatal health. http://www.awhonn.org/awhonn/?pg=875-4810-5600 (data accessed: 2013)

International Federation of Gynecology and Obstetrics (FIGO) - Various abstracts and position papers regarding genetics, infertility or infectious diseases. http://www.figo.org/

International Huntington Association, "Guidelines for the Molecular Genetics Predictive Test in Huntington's Disease", Netherlands , March 1994, http://www.huntington-assoc.com/guidel.htm (date accessed: August 14, 2006). These revised guidelines were published in the Journal of Medical Genetics (1994;31:555-559) and in Neurology (1994;44:1533-1536)

International Bioethics Committee, "Report of the IBC on Pre-implantation Genetic Diagnosis and Germ-line Intervention", Paris , April 24, 2003 , http://unesdoc.unesco.org/images/0013/001302/130248e.pdf (data accessed: 2013)

UNESCO - International Bioethics Committee (IBC), "Report on Genetic Screening and Testing", Paris, December 20, 1994 , http://unesdoc.unesco.org/images/0013/001323/132346e.pdf (data accessed: 2013)

World Health Organization (WHO): This section includes expert and technical reports, publications, factsheets and WHO resolutions on Human genetics.http://www.who.int/genomics/publications/en/index/html

World Health Organization (WHO): This section includes expert and technical reports, publications, factsheets and WHO resolutions on Molecular tests for infectious diseases. http://search.who.int/search?q=Molecular+&ie=utf8&site=who&client=_en&proxystylesheet=_en&output=xml_no_dtd&oe=utf8&getfields=doctype

 

Regional and National Regulatory Dcouments, Policy Documents and Guidelines

Editorial team: The content of the website is peer-reviewed and updated by members and associate members of the C-MD (see Committee membership in About Us)



 

 

 

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