Parkinson's Disease Genotyping

CPT Code(s): 81401 (LRRK2), 81251 (GBA)

Ordering Recommendation: This test is intended to identify the GBA c.1226A>G (p.N409S; historically known as p.N370S) and LRRK2 c.6055G>A (p.G2019S) risk variants for Parkinson disease. Information about these variants may be used as an aid to clinicians for confirming a diagnosis of Parkinson disease in patients.

Synonyms: GBA c.1226A>G, GBA legacy p.N370S, LRRK2 c.6055G>A (p.G2019S), Parkinson disease

Methodology: Realtime polymerase chain reaction (PCR) and hydrolysis probe analysis

Performed: Weekly

Reported: 7-10 days

Collect: Preferred: Lavender (EDTA); Acceptable: Yellow (ACD Solution A or B), Green (Heparin), Saliva (Oragene collection device)

Specimen Volume: Blood: 3 mL whole blood (minimum 1 mL); Saliva: 2 mL

Storage/Transport: Refrigerated/Room temperature

Unacceptable Conditions: Grossly hemolyzed or clotted

Stability: One month refrigerated; One month frozen