Gene

DSE - Ehlers-Danlos syndrome, musculocontractural type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 409

DSE - Ehlers-Danlos syndrome, musculocontractural type 2



€ 409

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 *
  • WES Mendelian inherited disorders (97.2% **)
  • WES skin disorders* (97.2% **)

** % 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




€ 409
Gene

PLOD1 - Ehlers-Danlos syndrome type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

PLOD1 - Ehlers-Danlos syndrome type 6



€ 468

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 *
  • WES fetal akinesia (97.3% **)
  • WES heart disorders* (97.3% **)
  • WES Mendelian inherited disorders (97.3% **)
  • WES metabolic disorders (97.3% **)
  • WES skin disorders* (97.3% **)

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




€ 468