Cutis laxa (elastolysis), autosomal recessive

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

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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

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