CPT Code(s): 81404
Ordering Recommendation: Targeted PSEN1 sequencing is recommended for individuals with clinical symptoms of early onset Alzheimer disease, which begins before age 65, and 1) where either the familial variant is known or 2) the variant has been identified by a research protocol and needs to be confirmed in a clinical laboratory.
Synonyms: PSEN1, Presenilin 1, Alzheimer disease, early onset Alzheimer disease, dementia
Methodology: Sanger sequence analysis. The PSEN1 cDNA reference sequence used is NM_000021.4.
Performed: Monday through Friday
Reported: 14 days