ACAN - spondyloepimetaphyseal dysplasia type aggrecan

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Spondyloepimetaphysal dysplasia
  • Conditions > Skeletal > Spondyloepimetaphysal dysplasia

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 155760
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 459
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Gene

ACAN - spondyloepimetaphyseal dysplasia type aggrecan

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 459
View Add

ACAN - spondyloepimetaphyseal dysplasia type aggrecan


€ 459
Add