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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).
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