NL
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 / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
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 / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
