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I posted here yesterday regarding a genetic test my Aunt had around 20 years ago for a hereditary syndrome that runs in the family. She says that the test came back inconclusive for the Vascular type of the syndrome. My understanding is that the vascular type is linked to a mutation in Type I Collagen gene COL3A1. There is also another gene COL1A1 that affects Type 1 collagen production. The test that my Aunt would have had would be to look for a mutation in the COL3A1 gene. Could the inconclusive result possibly mean that they didn’t find a mutation in COL3A1 but it may have been a mutation in the COL1A1 gene? Or doesn’t the testing work like this?
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- 5 years ago
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