NL
ACTB - Baraitser-Winter syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Baraitser-Winter syndrome
This product is also part of the following panels:
- Epilepsy panel
- Hearing impairment panel (including GJB2)
- Hemostatic/thrombotic disorders panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Orofacial clefting panel with genome wide CNV analysis
- Primary immunodeficiencies panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Skin disorders panel¹
Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
102630
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
ACTG1 - Baraitser-Winter syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Baraitser-Winter syndrome
This product is also part of the following panels:
- Craniofacial anomalies panel with genome wide CNV analysis
- Hearing impairment panel (including GJB2)
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
102560
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
