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MYBPC1 - distal arthrogryposis type 1B
This test is available for the following conditions:
- Conditions > Skin > Distal arthrogryposis
- Conditions > Skeletal > Distal arthrogryposis
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Fetal akinesia panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Muscle 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:
160794
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MYH3 - distal arthrogryposis type 2A/2B
This test is available for the following conditions:
- Conditions > Skin > Distal arthrogryposis
- Conditions > Skeletal > Distal arthrogryposis
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Fetal akinesia panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Muscle disorders panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
193700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TPM2 - distal arthrogryposis type 1/2B
This test is available for the following conditions:
- Conditions > Skin > Distal arthrogryposis
- Conditions > Skeletal > Distal arthrogryposis
This product is also part of the following panels:
- Fetal akinesia panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Muscle 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:
190990
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
