HES7 - spondylocostal dysostosis type 4

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Spondylocostal dysostosis

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (72.7% **)
  • WES short stature/skeletal dysplasia (72.7% **)

** % 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: 608059
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 345

Gene

DLL3 - autosomal recessive spondylocostal dysostosis type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

DLL3 - autosomal recessive spondylocostal dysostosis type 1



€ 377

DLL3 - autosomal recessive spondylocostal dysostosis type 1

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Spondylocostal dysostosis

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (92.5% **)
  • WES short stature/skeletal dysplasia (92.5% **)

** % 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: 602768
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377
Gene

HES7 - spondylocostal dysostosis type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 345

HES7 - spondylocostal dysostosis type 4



€ 345