Robinow syndrome

DVL1 - 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
• Orofacial clefting panel
• Short stature/skeletal dysplasia panel

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

Method

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

Remarks
Only exon 14 of the DVL1 gene will be tested, since all reported (activating) mutations are located in the penultimate exon (exon 14) of the DVL1 gene (White et al., Am J Hum Genet. 2015 Apr 2;96(4):612-22).

OMIM: 601365
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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
• Orofacial clefting panel
• Short stature/skeletal dysplasia panel

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

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

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