Invitae Hereditary Alzheimer's Disease Panel
Use
The Invitae Hereditary Alzheimer’s Disease (AD) Panel analyzes three genes associated with early-onset hereditary Alzheimer’s disease, which is characterized by progressive memory loss, language disturbances, and psychiatric manifestations. This test can be beneficial for individuals with a clinical diagnosis of early-onset AD, especially those with a strong family history of dementia, as it aids in diagnosing, providing anticipatory guidance, identifying at-risk relatives, and promoting clinical trial enrollment.
Special Instructions
Invitae’s methods detect insertions and deletions larger than 15bp but smaller than a full exon, though sensitivity may be reduced. Single-exon copy number events may not be analyzed due to sequence properties or data quality. Structural rearrangements or variants in sequences with complex architecture may not be detected. Sequence changes in non-coding regions are not covered unless guaranteed.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. However, it may not detect structural rearrangements, certain types of variants in complex sequences, mosaicism, phasing, or mapping ambiguity, and may have limitations with promoter and non-coding regions unless explicitly covered.
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)