Gene

CHRNA1 - multiple pterygium syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 393

CHRNA1 - multiple pterygium syndrome



€ 393

CHRNA1 - multiple pterygium syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Multiple pterygium syndrome

This product is also part of the following panels:

  • WES fetal akinesia (93.3% **)
  • WES Mendelian inherited disorders (93.3% **)
  • WES muscle disorders (93.3% **)

** % 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: 100690
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 393