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Presenilin 1 (PSEN1), Full Gene Sequencing

CPT Code(s):  81405

Ordering Recommendation: PSEN1 full gene sequencing is recommended for individuals with clinical symptoms of early onset Alzheimer disease, which begins before age 65, and individuals with a positive family history of early-onset Alzheimer disease.

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

Specimen Requirements

Collect: Preferred: whole blood in a lavender top (EDTA) tubes, cultured and uncultured cells

Specimen Volume: Blood: 3 mL whole blood (minimum 1 mL)

Storage/Transport: Refrigerated/Room temperature

Unacceptable Conditions: Grossly hemolyzed or clotted

Stability: One month refrigerated; One month frozen