SMC3 - Cornelia de Lange syndrome 3

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Cornelia de Lange syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Cornelia de Lange syndrome

This product is also part of the following panels:

  • WES craniofacial anomalies (89.7% **)
  • WES intellectual disability (89.7% **)
  • WES Mendelian inherited disorders (89.7% **)

** % 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: 606062
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 550

Gene

NIPBL - Cornelia de Lange syndrome, type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 825

NIPBL - Cornelia de Lange syndrome, type 1



€ 825

NIPBL - Cornelia de Lange syndrome, type 1

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Cornelia de Lange syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Cornelia de Lange syndrome

This product is also part of the following panels:

  • WES craniofacial anomalies (96.9% **)
  • WES intellectual disability (96.9% **)
  • WES Mendelian inherited disorders (96.9% **)
  • WES skin disorders¹ (96.9% **)

** % 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
  • Deletion/duplication analysis (MLPA)

OMIM: 608667
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 825
Gene

SMC3 - Cornelia de Lange syndrome 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 550

SMC3 - Cornelia de Lange syndrome 3



€ 550