Idiopathic Basal Ganglia Calcification Panel
Use
The Idiopathic Basal Ganglia Calcification Panel is designed for individuals with neurological symptoms and bilateral calcification of the basal ganglia on neuroimaging, potentially leading to a diagnosis of Fahr's syndrome. Neurological manifestations can include movement disorders, cognitive impairment, and psychiatric symptoms. The panel helps in identifying genetic mutations that can aid in diagnosis and familial counseling.
Special Instructions
This test is New York approved and developed by PreventionGenetics LLC, following CAP and CLIA regulations. Testing requires a completed online order or paper test requisition form. Samples must be collected properly as per the specimen instructions to avoid delays.
Limitations
The test is limited to the detection of variants within the four genes specified in the test panel. It may not detect all diagnostic variants, particularly those outside the genomic regions covered by the test or in cases where CNV is not detectable. Interpretation relies on the quality of the clinical information provided; therefore, incomplete information might affect the results.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided