Robinow syndrome

DVL3 - Robinow syndrome

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Robinow syndrome
• Conditions > Skeletal > Robinow 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

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

OMIM: 601368
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---

ROR2 - Robinow syndrome

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Robinow syndrome
• Conditions > Skeletal > Robinow syndrome

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• 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: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

Remarks
Deletions/duplications are rare and can be detected with high resolution SNP array. This test can be requested seperately.

OMIM: 268310
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---

WNT5A - Robinow syndrome

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Robinow syndrome
• Conditions > Skeletal > Robinow 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

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 180700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---