Early-Onset Alzheimer's Panel, Sequencing

Casandra

Casandra Test Code AR32828Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001585CPT Codes 81405, 81406

Early-Onset Alzheimer's Panel, Sequencing

Also known as: ALZ NGS

Clinical Use

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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

A patient history form and informed consent are required before testing, particularly for presymptomatic adults. Testing minors for adult-onset conditions is not recommended, and testing in minors will only be performed with prior approval. For clients from New York, specimens are sent out to a New York state-approved laboratory, as the test is not directly approved in New York state.

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.

Test Details