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Resources for Genetic Testing

The Laboratory Practices Committee was established as part of the original Mountain States Genetics Network. Currently supported by the Mountain States Genetics Foundation, Its members are committed to providing the most accurate information to other healthcare providers and consumers regarding the availability and appropriate use of cytogenetic (chromosome) and molecular (DNA) genetic testing. Education is a large component of our efforts for ourselves, other health professional and consumers.

To find laboratories for genetic analysis in our member states, read Laboratory Services in:

Laboratory Practices Committee Publications

• DNA Testing - Informed Consent and Request Forms
  Generic forms for DNA testing.  Informed Consent form provides hyperlinks to definitions of terms used in the document.
   

• FAQ'S: Frequently Asked Questions about cytogenetic analysis
   
• Molecular Cytogenetics (FISH): "Genetic Drift" Vol. 13, Spring 1996

  • Introduction & Basic Techniques
  • Applications of FISH Technology
  • FISH Applications in Cancer Cytogenetics
  • FISH and Williams Syndrome
  • FISHing in Unknown Waters
  • Regulatory Issues and FISH

• Molecular Genetic Testing in Mainstream Medicine: "Genetic Drift" - Vol. 14, Spring 1997

  • Introduction
  • Venous Thrombosis and the Factor V (Leiden) Mutation
  • DNA Testing for Hereditary Hemochromatosis
  • APO E Genotype Testing for Broad Beta Disease (Type III Hyperlipoproteinemia)
  • Fetal Rh Testing for Maternal-Fetal Incompatibility
  • Type 1 (insulin-dependent) Diabetes Mellitus
  • Adult Onset Neurodegenerative Disorders: CAG Triplet Repeat Expansion Mutations
  • Genetic Testing for Prader-Willi and Angelman Syndromes
  • Clinical and Applied Molecular Genetics Laboratories in the Mountain States Region

Laboratory Practices Committee Resources

Molecular Genetics Slide Set
This is a cartoon version of molecular genetics. It has been enjoyed by many different types of audiences. It provides basic information about molecular genetics concepts and terminology. Contact Joyce Hooker: joycehooker@mostgene.org if interested.

Internet Resources

Professional and Consumer Websites

Understanding Genetic Testing
A booklet from the National Institutes of Health National Cancer Institute. Includes descriptions of genetic testing and glossary of terms.

Count of Mapped Genes by Chromosome
Located at Genome Database and updated frequently.

Human Genome Project Information
This web site maintained by the Human Genome Management Information System (HGMIS) at Oak Ridge National Laboratory for the U.S. Department of Energy Human Genome Program.  It provides a wealth of information regarding the mapping of the entire human genome.

Specific Disease Support Groups
Because genetic conditions are relatively rare, information about these conditions is difficult to find. Support groups have formed that assist families and physicians in obtaining information, as well as, allow families to contact other families/individuals with the same or similar condition. We suggest you contact your local genetics unit for more specific information.  Locate your local genetics unit using the MoStGeNe Genetic Services Directory. Or, find WWW resources on our Resources for Consumers page.

Professional Websites

Atlas of Genetics and Cytogenetics in Oncology and Hematology

GeneTests
A searchable directory of laboratories that provide molecular testing for genetic conditions. Access is limited to health professionals.

Genetic Disorders by Chromosome
Located at the Genome Database and updated frequently.

GDB The Genome Database
GDB stores genomic mapping data (probes, clones, chromosome maps) that can be searched by keyword, name or accession ID, gene name or symbol, and by chromosome or location on a genomic segment. - Johns Hopkins University School of Medicine.

Human Chromosome Launch Pad
This site is provided as a single-source launch pad to information about each human chromosome.

HUM-MOLGEN
This website is managed by an international editorial board of geneticists. It provides access to relevant journal table-of-contents, job postings, calls for collaboration, discussion forums and more.

NHGRI 'The National Human Genome Research Institutes'
This Guide to Genetic and Genome Resources is organized by Genome Centers, Genome Data Resources, and Sequence Data Resources.

NCBI 'National Center for Biotechnology Information'
One stop shopping for -

OMIM: Online Mendelian Inheritance in Man - A catalog of genetic diagnoses with an accompanied description and reference list. The database is updated frequently with relevant citations to the current literature.

PubMed: free access to the full MEDLINE database.

GeneMap '99 Gene Map of the Human Genome

Entrez: searches Genbank with keywords

BLAST: searches GenBank via a nucleotide or protein sequence and provides 3-D molecular structures for a number of the proteins


NCBI Coffee Break
Coffee Break is a collection of short reports on recent biological discoveries. Each report incorporates interactive tutorials that show how bioinformatics tools are used as a part of the research process.

Human Chromosome Ideograms - University of Washington Department of Pathology
Created by David Adler, Ph.D., a complete set of human chromosome ideograms.  Can be used and altered for educational purposes.
 

Related Associations

Association for Molecular Pathology
American Society of Human Genetics
National Society of Genetic Counselors
 

Related Journals

Nature Genetics
Cell
Human Molecular Genetics
Human Genome News