Connective Tissue Disease: Ehlers-Danlos Syndrome Panel

Test Information

Title
Connective Tissue Disease: Ehlers-Danlos Syndrome Panel
Lab
Category
Cardiogenetics, Connective Tissue
Test Name (CMS Title)
Ehlers-Danlos Syndrome
Gene/Platform/Region List
ACTA2, ADAMTS2, ATP7A, B4GALT7 (no dosage), CHST14, COL3A1, COL5A1, COL5A2, COL1A1, COL1A2, DSE, FBN2, FKBP14, PLOD1, PRDM5, SLC39A13, SMAD3, TGFB2, TGFBR1, TNXB, TGFBR2, ZNF469
Test type
Samples Accepted
Blood, DNA
Indications
Diagnosis
Test Methodology
Sequencing
Methodology Notes
Exome + targeted microarray + MLPA
Disease/Condition
EDS, Ehlers Danlos Syndrome

Last Updated: November 14, 2025

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