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:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (89.1% **)
  • WES short stature/skeletal dysplasia (89.1% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

Gene

ACAN - spondyloepimetaphyseal dysplasia type aggrecan

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

ACAN - spondyloepimetaphyseal dysplasia type aggrecan



€ 459
Gene

GPX4 - Spondylometaphyseal dysplasia, type Sedaghatian ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 369

GPX4 - Spondylometaphyseal dysplasia, type Sedaghatian ¹



€ 369

GPX4 - Spondylometaphyseal dysplasia, type Sedaghatian ¹

This test is available for the following conditions:

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

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (90.7% **)
  • WES short stature/skeletal dysplasia (90.7% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

Method

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

OMIM: 138322
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369