PDGFB - idiopathic basal ganglia calcification type 5
This test is available for the following conditions:
- Conditions > Neurological > Basal ganglia calcification, idiopathic
This product is also part of the following panels:
- WES hereditary cancer (100.0% **)
- WES Mendelian inherited disorders (100.0% **)
- WES movement disorders (100.0% **)
- WES Parkinson disease (100.0% **)
- WES skin 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:
190040
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PDGFRB - idiopathic basal ganglia calcification type 4
This test is available for the following conditions:
- Conditions > Neurological > Basal ganglia calcification, idiopathic
This product is also part of the following panels:
- WES Mendelian inherited disorders (96.5% **)
- WES movement disorders (96.5% **)
- WES Parkinson disease (96.5% **)
- WES skin disorders* (96.5% **)
** % 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:
173410
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
