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:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Skin disorders panel¹
  • Vision disorders panel

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

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:

  • Comprehensive preconception carrier test panel¹
  • Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
  • Fetal akinesia panel
  • Hereditary cancer panel
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Premature ovarian insufficiency panel
  • Skin disorders panel¹
  • Vision disorders panel

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