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 (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES orofacial clefting (% *)
- WES short stature/skeletal dysplasia (% *)
- WES skin disorders¹ (% *)
* % 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 (% *)
- WES intellectual disability (% *)
- WES liver disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES movement disorders (% *)
- WES neuropathies¹ (% *)
- WES short stature/skeletal dysplasia (% *)
- WES skin disorders¹ (% *)
- WES vision disorders (% *)
* % 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