Cranioectodermal dysplasia

IFT122 - cranioectodermal dysplasia type 1

This test is available for the following conditions:

• Conditions > Skeletal > Cranioectodermal dysplasia

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 218330
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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IFT43 - cranioectodermal dysplasia, type 3

This test is available for the following conditions:

• Conditions > Skeletal > Cranioectodermal dysplasia

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 614068
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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WDR19 - cranioectodermal dysplasia, type 4

This test is available for the following conditions:

• Conditions > Skeletal > Cranioectodermal dysplasia

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 608151
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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