ATP6V1A - Cutis laxa, autosomal recessive

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Cutis laxa, autosomal recessive

This product is also part of the following panels:

** % 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: 607027
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Products Conditions Congenital disorder of glycosylation Cutis laxa, autosomal recessive
Gene

ATP6V0A2 - Cutis laxa, autosomal recessive type IIA

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ATP6V0A2 - Cutis laxa, autosomal recessive type IIA



€ 725

ATP6V0A2 - Cutis laxa, autosomal recessive type IIA

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Cutis laxa, autosomal recessive

This product is also part of the following panels:

** % 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: 611716
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

ATP6V1A - Cutis laxa, autosomal recessive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ATP6V1A - Cutis laxa, autosomal recessive



€ 725