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ADAMTS10 - autosomal recessive Weill-Marchesani syndrome type 1
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Weill-Marchesani syndrome
- Conditions > Vision impairment / blindness > Weill-Marchesani syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- Short stature/skeletal dysplasia 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:
608990
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
LTBP2 - autosomal recessive Weill-Marchesani syndrome type 3
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Weill-Marchesani syndrome
- Conditions > Vision impairment / blindness > Weill-Marchesani syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- 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:
602091
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
