NL
ABCC9 - Cantu syndrome
This test is available for the following conditions:
- Conditions > Skeletal > Cantu syndrome
This product is also part of the following panels:
- Heart disorders panel¹
- Intellectual disability panel with genome wide CNV analysis
- Lymphatic anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Skin disorders panel¹
- Tall stature panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
601439
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KCNJ8 - Cantu syndrome
This test is available for the following conditions:
- Conditions > Skeletal > Cantu syndrome
This product is also part of the following panels:
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
600935
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
