NL
CLCN7 - autosomal dominant osteopetrosis type 2
This test is available for the following conditions:
- Conditions > Skeletal > Osteopetrosis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES primary immunodeficiencies (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:
166600
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CLCN7 - autosomal recessive osteopetrosis type 4
This test is available for the following conditions:
- Conditions > Skeletal > Osteopetrosis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES primary immunodeficiencies (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:
602727
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
LRP5 - osteopetrosis, autosomal dominant 1
This test is available for the following conditions:
- Conditions > Skeletal > Osteopetrosis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (100.0% *)
- WES liver disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES renal disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES vision 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:
603506
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
