AGDx NGS – Stickler syndrome and related disorders panel v3.0

Test code: V00048
To add a test to your selection, Choose ONE clinical indication. Additional information must be specified when Order test
Clear

Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of very rare genetic disorders affecting connective tissue.

Genes

BMP4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, GZF1, LOXL3, LRP2, P3H2, PLOD3, SLC26A2, SLITRK6, VCAN, XYLT2

Lab method

NGS Sequencing

Turnaround time

3 months

Location

Location VU

Price  1.115,00

Disorder(s)

  • Kniest dysplasia (OMIM: 156550)
  • Marshall syndrome (OMIM: 154780)
  • Multiple epiphyseal dysplasia (OMIM: 226900)
  • Otospondylomegaepiphyseal dysplasia (OMIM: 215150)
  • Spondyloepiphyseal dysplasia congenita (OMIM: 183900)
  • Stickler syndrome
  • Weissenbacher-Zweymuller syndrome (OMIM: 277610)