NL
SMAD3 - Loeys-Dietz syndrome, type 3
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Loeys-Dietz syndrome
This product is also part of the following panels:
- 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
- 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:
603109
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TGFBR1 - Loeys-Dietz syndrome, type 1
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Loeys-Dietz syndrome
This product is also part of the following panels:
- Craniofacial anomalies panel with genome wide CNV analysis
- 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
- 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:
190181
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TGFBR2 - Loeys-Dietz syndrome, type2
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Loeys-Dietz syndrome
This product is also part of the following panels:
- Craniofacial anomalies 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
- 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:
190182
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
