Judicature Genes and Justice
The Growing Impact of the New Genetics on the Courts

November-December 1999  Vol 83(3)

 
 
Some currently available gene tests

Gene tests for the disorders listed below are available from clinical genetics laboratories around the country. (Test name and some symptoms appear in parentheses.) The gene tests currently available (most in research settings only) detect only rare conditions that are usually caused by DNA changes in a single gene. Such common diseases as hypertension, heart disease, diabetes, and many cancers have complex genetics probably involving several genes that interact with environmental conditions to cause disease. There are no gene tests for these conditions yet, but this undoubtedly will change as more is learned about DNA.

  • Amyotrophic lateral sclerosis (ALS; Lou Gehrig's Disease; progressive motor function loss leading to paralysis and death)
  • Gaucher disease (GD; enlarged liver and spleen, bone degeneration)
  • Inherited breast and ovarian cancer (BRCA1 and 2; early-onset tumors of breasts and ovaries)
  • Hereditary nonpolyposis colon cancer (CA; early-onset tumors of colon and sometimes other organs)
  • Cystic fibrosis (CF; disease of lung and pancreas resulting in thick mucous accumulations and chronic infections)
  • Duchenne muscular dystrophy/Becker muscular dystrophy (DMD; severe to mild muscle wasting, deterioration, weakness)
  • Fanconi anemia, group C (FA; anemia, leukemia, skeletal deformities)
  • Fragile X syndrome (FRAX; leading cause of inherited mental retardation)
  • Hemophilia A and B (HEMA and HEMB; bleeding disorders)
  • Huntington disease (HD; usually midlife onset; progressive, lethal, degenerative neurological disease)
  • Neurofibromatosis type 1 (NF1; multiple benign nervous system tumors that can be disfiguring; cancers)
  • Adult Polycystic Kidney Disease (APKD; kidney failure and liver disease)
  • Prader Willi/Angelman syndromes (PW/A; decreased motor skills, cognitive impairment, early death)
  • Sickle cell disease (SS; blood cell disorder; chronic pain and infections)
  • Spinocerebellar ataxia, type 1 (SCA1; involuntary muscle movements, reßex disorders, explosive speech)
  • Thalassemias (THAL; anemias)
  • Tay-Sachs Disease (TS; fatal neurological disease of early childhood; seizures, paralysis)

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Denise K. Casey is a science writer, editor, and educator with the DOE Human Genome Program Human Genome Management Information System at Oak Ridge National Laboratory. She has written numerous articles for technical and lay readers on genetics and its applications and has served as a faculty member at judicial education seminars.
 
 
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The online presentation of this publication is a special feature of the Human Genome Project Information Web site.