Gene

ERCC6 - Cockayne syndrome, type B

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 517

ERCC6 - Cockayne syndrome, type B



€ 517

ERCC6 - Cockayne syndrome, type B

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Cockayne syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Cockayne syndrome

This product is also part of the following panels:

  • WES fetal akinesia (99.9% **)
  • WES hereditary cancer (99.9% **)
  • WES intellectual disability (99.9% **)
  • WES Mendelian inherited disorders (99.9% **)
  • WES skin disorders* (99.9% **)

** % 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

OMIM: 609413
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 517
Gene

ERCC8 - Cockayne syndrome type A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 409

ERCC8 - Cockayne syndrome type A



€ 409

ERCC8 - Cockayne syndrome type A

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Cockayne syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Cockayne syndrome

This product is also part of the following panels:

  • WES intellectual disability (90.0% **)
  • WES Mendelian inherited disorders (90.0% **)
  • WES skin disorders* (90.0% **)

** % 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: 609412
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 409