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Diseases

Genetic and Rare Diseases Information Center (GARD)

Essential thrombocythemia


Other Names for this Disease
  • Primary thrombocythemia
  • Hemorrhagic thrombocythemia
  • Essential thrombocytosis
  • Idiopathic thrombocythemia
  • ET
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is genetic testing available for essential thrombocythemia?

While most cases of essential thrombocythemia are not inherited, genetic testing is available for some of the genes known to be associated with rare cases of familial thrombocythemia. This includes the THPO and MPL genes.[1]

Last updated: 12/30/2015

How is essential thrombocythemia diagnosed?

Most of the time, this condition is found through blood tests done for other conditions before symptoms appear.

An enlarged liver or spleen might be found by a healthcare provider on physical examination. People with essential thrombocythemia might also have abnormal blood flow in the toes or feet that causes skin damage in these areas.

Other tests may include:
Last updated: 12/30/2015

References
  1. Essential thrombocythemia. Genetics Home Reference. September, 2014; http://ghr.nlm.nih.gov/condition/essential-thrombocythemia. Accessed 12/30/2015.
  2. Primary thrombocythemia. MedlinePlus Medical Encyclopedia. 2/13/2015; http://www.nlm.nih.gov/medlineplus/ency/article/000543.htm. Accessed 12/30/2015.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Primary thrombocythemia
  • Hemorrhagic thrombocythemia
  • Essential thrombocytosis
  • Idiopathic thrombocythemia
  • ET
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.