NL
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:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % 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:
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:
- WES fetal akinesia (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
* % 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:
190990
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
