Gene

EFEMP2 - autosomal recessive cutis laxa type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

EFEMP2 - autosomal recessive cutis laxa type 1



€ 377

EFEMP2 - autosomal recessive cutis laxa type 1

This test is available for the following conditions:

  • Conditions > Skin > Cutis laxa (elastolysis), autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES heart disorders¹ (100.0% **)
  • WES Mendelian inherited disorders (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: 604633
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377
Gene

FBLN5 - autosomal recessive cutis laxa type 1A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402

FBLN5 - autosomal recessive cutis laxa type 1A



€ 402

FBLN5 - autosomal recessive cutis laxa type 1A

This test is available for the following conditions:

  • Conditions > Skin > Cutis laxa (elastolysis), autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (91.5% **)
  • WES neuropathies (HMSN)¹ (91.5% **)
  • WES skin disorders¹ (91.5% **)

** % 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: 604580
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 402
Gene

PYCR1 - autosomal recessive cutis laxa type 2B

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 360

PYCR1 - autosomal recessive cutis laxa type 2B



€ 360

PYCR1 - autosomal recessive cutis laxa type 2B

This test is available for the following conditions:

  • Conditions > Skin > Cutis laxa (elastolysis), autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (97.4% **)
  • WES Mendelian inherited disorders (97.4% **)
  • WES metabolic disorders (97.4% **)
  • WES mitochondrial disorders (97.4% **)
  • WES skin disorders¹ (97.4% **)

** % 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: 179035
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 360