NOG - brachydactylie type b2

This test is available for the following conditions:

  • Conditions > Skeletal > Brachydactyly type b

This product is also part of the following panels:

  • WES craniofacial anomalies (% *)
  • WES hearing impairment (including GJB2) (% *)
  • WES Mendelian inherited disorders (% *)
  • WES short stature/skeletal dysplasia (% *)

* % 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: 602991
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 328

Gene

NOG - brachydactylie type b2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 328

NOG - brachydactylie type b2



€ 328
Gene

ROR2 - autosomal dominant brachydactyly type B1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 410

ROR2 - autosomal dominant brachydactyly type B1



€ 410

ROR2 - autosomal dominant brachydactyly type B1

This test is available for the following conditions:

  • Conditions > Skeletal > Brachydactyly type b

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES intellectual disability (% *)
  • WES Mendelian inherited disorders (% *)
  • WES orofacial clefting (% *)
  • WES short stature/skeletal dysplasia (% *)

* % 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: 113000
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410