AGDx NGS – Stickler syndrome and related disorders panel v2.0

Test code: V00048
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Genes

COL11A1, COL11A2, COL2A1, COL9A1, COL9A2. COL9A3, SLC26A2, VCAN

Lab method

NGS Sequencing

Turnaround time

3 months

Location

Location VU

Price  1.115,00

Category:

  • 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)