Gene

ACTB - Baraitser-Winter syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 353

ACTB - Baraitser-Winter syndrome



€ 353

ACTB - Baraitser-Winter syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Baraitser-Winter syndrome

This product is also part of the following panels:

  • WES epilepsy (99.7% **)
  • WES hearing impairment (99.7% **)
  • WES intellectual disability (99.7% **)
  • WES Mendelian inherited disorders (99.7% **)
  • WES movement disorders (99.7% **)
  • WES primary immunodeficiencies (99.7% **)
  • WES short stature/skeletal dysplasia (99.7% **)
  • WES skin disorders¹ (99.7% **)

** % 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: 102630
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 353
Gene

ACTG1 - Baraitser-Winter syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 353

ACTG1 - Baraitser-Winter syndrome



€ 353

ACTG1 - Baraitser-Winter syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Baraitser-Winter syndrome

This product is also part of the following panels:

  • WES hearing impairment (100.0% **)
  • WES intellectual disability (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)

** % 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: 102560
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 353