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Conditions & Diseases: Bones, Muscles & JointsEhlers-Danlos Syndrome (EDS)See Also: Medical Tests & Diagnosis Methods/Tools Some of the common diagnostic methods to detect EDS include: 1. Genetic tests: DNA testing is conducted for classical type EDS, Vascular type EDS, kyphoscoliosis type EDS and arthrochalasis type EDS. A prenatal DNA testing and preimplantation genetic diagnosis is conducted to test embryos obtained by in-vitro (fertilization of egg outside living environment) fertilization this test is done in families in which disease causing mutation has been identified. 2. Urine test: A urine test helps in identifying kyphoscoliosis type by measuring the level of an enzyme produced by the gene associated with kyphoscoliosis type. 3. Skin biopsy: A skin biopsy may reveal abnormal collagen fibers in the skin. The vascular type of EDS can be diagnosed by analyzing collagen produced by skin cells. 4. Heart ultrasound: A heart ultrasound is conducted to detect mitral valve prolapse that can occur with classical and hypermobility EDS subtypes. This test helps identify abnormalities in the heart muscle and valves (3). See Also:
Article by Kona Vishnu, MS |
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Page Last Modified:
11/05/2009