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COL11A2 - otospondylomegaepiphyseal dysplasia

This test is available for the following conditions:

Conditions > Multiple congenital anomalies (MCA) > Otospondylomegaepiphyseal dysplasia

This product is also part of the following panels:

Comprehensive preconception carrier test panel¹
Craniofacial anomalies panel
Hearing impairment panel (including GJB2)
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

OMIM: 120290
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 616

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Otospondylomegaepiphyseal dysplasia

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Gene

COL11A2 - otospondylomegaepiphyseal dysplasia

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

Performing laboratory
Radboudumc

€ 616

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COL11A2 - otospondylomegaepiphyseal dysplasia

GEN

complete analysis

targeted analysis of a familial mutation

€ 616

Add Update Remove

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