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Presenilin 2 (PSEN2), Targeted Variant Sequencing

CPT Code(s):  81403

Ordering Recommendation: Targeted PSEN2 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: PSEN2, Presenilin 2, Alzheimer disease, early onset Alzheimer disease, dementia

Methodology: Sanger sequence analysis. The PSEN2 cDNA reference sequence used is NM_000447.3.

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