Basal ganglia calcification, idiopathic

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

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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

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