Weill-Marchesani syndrome

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
• Mitochondrial disorders panel
• Short stature/skeletal dysplasia panel
• Skin disorders panel¹

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

---