Currently Available Tests

Some genetic tests available as of 1998 from clinical genetics laboratories approved by New York State appear below. Test names and a description of the diseases or symptoms appear in parentheses. Susceptibility tests, noted by an asterisk, provide only an estimated risk for developing the disorder.

  • Alpha-1-antitrypsin deficiency (AAT; emphysema and liver disease)
  • Amyotrophic lateral sclerosis (ALS; Lou Gehrig's Disease; progressive motor function loss leading to paralysis and death) Alzheimer's disease* (APOE; late-onset variety of senile dementia)
  • Ataxia telangiectasia (AT; progressive brain disorder resulting in loss of muscle control and cancers)
  • Gaucher disease (GD; enlarged liver and spleen, bone degeneration)
  • Inherited breast and ovarian cancer* (BRCA 1 and 2; early-onset tumors of breasts and ovaries)
  • Hereditary nonpolyposis colon cancer* (CA; early-onset tumors of colon and sometimes other organs)
  • Charcot-Marie-Tooth (CMT; loss of feeling in ends of limbs)
  • Congenital adrenal hyperplasia (CAH; hormone deficiency; ambiguous genitalia and male pseudohermaphroditism)
  • 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)
  • Dystonia (DYT; muscle rigidity, repetitive twisting movements)
  • Fanconi anemia, group C (FA; anemia, leukemia, skeletal deformities)
  • Factor V-Leiden (FVL; blood-clotting disorder)
  • Fragile X syndrome (FRAX; leading cause of inherited mental retardation)
  • Hemophilia A and B (HEMA and HEMB; bleeding disorders)
  • Huntington's disease (HD; usually midlife onset; progressive, lethal, degenerative neurological disease)
  • Myotonic dystrophy (MD; progressive muscle weakness; most common form of adult muscular dystrophy)
  • Neurofibromatosis type 1 (NF1; multiple benign nervous system tumors that can be disfiguring; cancers)
  • Phenylketonuria (PKU; progressive mental retardation due to missing enzyme; correctable by diet)
  • 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, reflex disorders, explosive speech)
  • Spinal muscular atrophy (SMA; severe, usually lethal progressive muscle-wasting disorder in children)
  • Thalassemias (THAL; anemias - reduced red blood cell levels)
  • Tay-Sachs Disease (TS; fatal neurological disease of early childhood; seizures, paralysis) [3/99]
Source: http://www.ornl.gov/hgmis/medicine/genetest.html#testsavailable


Explore More: Genetic Engineering
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