Gene

DVL1 - Robinow syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 540

DVL1 - Robinow syndrome



€ 540

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:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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




€ 540
Gene

DVL3 - Robinow syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 552

DVL3 - Robinow syndrome



€ 552

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:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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




€ 552
Gene

ROR2 - Robinow syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 665

ROR2 - Robinow syndrome



€ 665

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:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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




€ 665
Gene

WNT5A - Robinow syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 587

WNT5A - Robinow syndrome



€ 587

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:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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




€ 587