| Test code: | 588 |
| Type of disorder: | Movement Disorders |
| Disease(s) tested for: | Parkinson's Disease |
| Genes Included: | LRRK2, PARK2, PARK7, PINK1, SNCA, |
| Tests included: | Alpha Synuclein (SNCA) DNA Sequencing Test Alpha Synuclein (SNCA) Duplication/Deletion Test LRRK2 DNA Sequencing Test PARK2 (Parkin) DNA Sequencing Test PARK2 (Parkin) Duplication/Deletion Test PARK7 (DJ1) Deletion Test PARK7 (DJ1) DNA Sequencing Test PINK1 Deletion Test PINK1 DNA Sequencing Test |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects mutations in LRRK2, PARK2 (Parkin), PINK1, PARK7 (DJ1), and Alpha Synuclein (SNCA) Typical Presentation: Cardinal symptoms of Parkinsonism, including resting tremor, postural instability, rigidity, and bradykinesia. Atypical features may also be present, such as depression, dementia, and hallucinations. Indications for testing: Juvenile-Onset PD regardless of family history, Early Onset PD with atypical parkinsonism, Early Onset PD with a positive family history, and Late Onset PD with a positive family history |
| Methodology: | Sanger Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA) |
| Reference Range: | No mutations detected |
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
| CPT: | 81405 x2, 81406, 81408, 81479 |
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: | Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: | 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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