Early-Onset Alzheimer's Panel, Sequencing
Also known as: ALZ NGS
Use
The Early-Onset Alzheimer's Panel, Sequencing is used for the diagnostic and presymptomatic testing of individuals who have a clinical suspicion for or a family history of Alzheimer's disease that manifests before the age of 65. The test detects pathogenic variants in the APP, PSEN1, and PSEN2 genes, which are causative of early-onset familial Alzheimer's disease (AD). This panel is particularly useful because symptoms of familial early-onset AD are similar to late-onset, but with a greater likelihood of genetic etiology. The test also provides information necessary for confirming Alzheimer's disease through molecular genetics.
Special Instructions
Not provided.
Limitations
The test focuses on detecting variants within the coding regions and intron-exon boundaries of the APP, PSEN1, and PSEN2 genes. Variants in regulatory regions or deep intronic variants are not identified. Additionally, the test may not detect deletions or insertions of any size, nor low-level mosaic or somatic variants. There are technical limitations regarding the presence of pseudogenes, repetitive, or homologous regions which may interfere with variant detection. The APP gene's exon 1 is not sequenced due to technical constraints. The test does not identify non-coding transcripts.
Methodology
NGS (Targeted)
Biomarkers
APP, PSEN1, PSEN2
Gene
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated.
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant