Invitae Neurodegeneration with Brain Iron Accumulation Panel
Use
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited conditions characterized by abnormal iron deposits in the brain, manifesting as a movement disorder with varying degrees of intellectual disability. It targets genes associated with various types of NBIA including Pantothenate kinase-associated neurodegeneration, Phospholipase A-2-associated neurodegeneration, Beta-propeller protein-associated neurodegeneration, and Mitochondrial membrane protein-associated neurodegeneration. The analysis provides a broad assessment for these conditions based on a single clinical indication.
Special Instructions
No special instructions were provided for ordering the test. However, specimen collection kits can be requested if needed. Contact client services for any questions.
Limitations
The assay may not fully cover certain variants such as structural rearrangements or those within sequences with complex architecture like short tandem repeats. Sequence changes in the promoter, non-coding exons, and other non-coding regions are not analyzed, unless explicitly stated. The assay achieves >99% analytical sensitivity and specificity for SNVs, insertions, and deletions <15bp, and exon-level deletions and duplications.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)