Use

This test is designed for individuals with a clinical or suspected diagnosis of classical-like Ehlers-Danlos syndrome (clEDS) or hypermobility EDS (hEDS), especially when next-generation sequencing (NGS) has limitations in analyzing exons 32-44 of TNXB accurately due to paralogous sequence. It is also intended for individuals with suspected gene conversions or unequal crossing over events affecting exons 32-44 of TNXB, particularly when CAH-X syndrome is suspected. Family members of individuals with known pathogenic variants in exons 32-44 of TNXB, and reproductive partners of individuals with a known pathogenic variant in TNXB may also benefit from this testing.