Ellis-van Creveld syndrome

EVC - Ellis-van Creveld syndrome

This test is available for the following conditions:

• Conditions > Skeletal > Ellis-van Creveld syndrome

This product is also part of the following panels:

• WES ciliopathies (99.9% *)
• WES comprehensive preconception carrier test ¹
• WES Mendelian inherited disorders (99.9% *)
• WES short stature/skeletal dysplasia (99.9% *)
• WES skin disorders¹ (99.9% *)

* % 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: 604831
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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