Brachydactyly type b

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 (100.0% *)
• WES hearing impairment (including GJB2) (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES short stature/skeletal dysplasia (100.0% *)

* % 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

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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 (100.0% *)
• WES intellectual disability (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES orofacial clefting (100.0% *)
• WES short stature/skeletal dysplasia (100.0% *)

* % 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

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