NL
EBP - chondrodysplasia punctata X-linked, type 2 ¹
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Chondrodysplasia punctata
This product is also part of the following panels:
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (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:
300205
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PEX7 - Rhizomelic chondrodysplasia punctata, type 1
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Chondrodysplasia punctata
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES heart disorders¹ (91.2% *)
- WES intellectual disability (91.2% *)
- WES liver disorders (91.2% *)
- WES Mendelian inherited disorders (91.2% *)
- WES metabolic disorders (91.2% *)
- WES movement disorders (91.2% *)
- WES neuropathies¹ (91.2% *)
- WES short stature/skeletal dysplasia (91.2% *)
- WES skin disorders¹ (91.2% *)
- WES vision disorders (91.2% *)
* % 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:
601757
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
