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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:
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Parkinson disease panel
- Skin disorders panel¹
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:
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Parkinson disease panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Skin disorders panel¹
- Tall stature panel with genome wide CNV analysis
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
SLC20A2 - idiopathic basal ganglia calcification type 1
This test is available for the following conditions:
- Conditions > Neurological > Basal ganglia calcification, idiopathic
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Parkinson disease panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
158378
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
