Neurodegeneration with Brain Iron Accumulation Panel
Use
This test is designed for individuals exhibiting clinical features or having a suspected diagnosis of neurodegeneration with brain iron accumulation. It is also applicable to individuals when neuroimaging reveals abnormal brain iron accumulation. The aim is to provide genetic insights that might assist in understanding the genetic cause of the condition, thereby supporting clinical management and decision-making for patients and their families.
Special Instructions
This panel includes analysis of 16 genes associated with neurodegeneration and brain iron accumulation disorders. Detailed clinical notes and a pedigree are recommended for variant interpretation along with the submission of relevant neuroimaging results if available. STAT testing options are available upon request, with a surcharge applied for expedited turnaround.
Limitations
The test is performed using next-generation sequencing (NGS) platforms but may not detect all variants in the targeted genes, such as those in repetitive or high GC-rich regions. Additionally, some CNVs might not be detected due to the platform's limitations or the quality of the sample. Interpretation of results is dependent on the quality of clinical information provided and may require additional family studies or testing to confirm findings.
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