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:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Neurological pain disorders panel¹
  • Neuropathies panel¹
  • Skin disorders panel¹

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

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:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Skin disorders panel¹

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
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:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • Skin disorders panel¹

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