Ehlers-Danlos syndrome

DSE - Ehlers-Danlos syndrome, musculocontractural type 2

This test is available for the following conditions:

• Conditions > Skin > Ehlers-Danlos syndrome

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES Mendelian inherited disorders (100.0% *)
• WES short stature/skeletal dysplasia (100.0% *)
• WES skin disorders¹ (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: 605942
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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PLOD1 - Ehlers-Danlos syndrome type 6

This test is available for the following conditions:

• Conditions > Skin > Ehlers-Danlos syndrome

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES fetal akinesia (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES metabolic disorders (100.0% *)
• WES short stature/skeletal dysplasia (100.0% *)
• WES skin disorders¹ (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
• Deletion/duplication analysis (MLPA)

Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 153454
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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