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:

• Craniofacial anomalies panel
• Hearing impairment panel (including GJB2)
• Mendelian inherited disorders panel
• Short stature/skeletal dysplasia panel

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:

• Comprehensive preconception carrier test panel¹
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Intellectual disability panel
• 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 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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