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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:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel
- Mendelian inherited disorders panel
- Metabolic disorders panel
- Short stature/skeletal dysplasia panel
- 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:
611716
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel
- Mendelian inherited disorders panel
- Metabolic disorders panel
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
