Gene

POLR1A - acrofacial dysostosis, Cincinnati type

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 591

POLR1A - acrofacial dysostosis, Cincinnati type



€ 591

POLR1A - acrofacial dysostosis, Cincinnati type

This test is available for the following conditions:

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

This product is also part of the following panels:

** % 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: 616462
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 591
Gene

SF3B4 - acrofacial dysostosis type 1, Nager type

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 352

SF3B4 - acrofacial dysostosis type 1, Nager type



€ 352

SF3B4 - acrofacial dysostosis type 1, Nager type

This test is available for the following conditions:

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

This product is also part of the following panels:

** % 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: 154400
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 352