Search for a diagnostic test
Molecular diagnosis of Ehlers-Danlos syndrome (entire coding region COL3A1 and COL5A1 genes; gene panel FBN1, ACTA2, SMAD3, TGFBR1, TGFBR2, TGFB2, TGFB3, MYH11, FBN2, MYLK, COL1A1, COL1A2, COL3A1, COL5A1, COL2A1, COL5A2, PLOD1, TNXB, SLC2A10, COL11A1, ELN; exome sequencing)Despite our efforts to ensure that data is up to date, this activity has not been validated since 12/01/2015
Last update: January 2015
Sequence analysis: entire coding region
NGS sequencing (except WES)
List of diseases and genes
List of diseases tested (1)
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