PARK2 (Parkin) Duplication/Deletion Test

Test Code
40

Test Details


Test code:40
Type of disorder:Movement Disorders
Disease(s) tested for:Parkinson's Disease
Genes Included: PARK2,
Profiles that contain this test:Complete Parkinsonism Evaluation
Informed Consent Required:This test requires physician attestation that patient consent has been received

Technical Information


Clinical Significance:

Detects duplications and deletions in PARK2 (Parkin)

Typical Presentation: Cardinal symptoms of Parkinsonism, including resting tremor, postural instability, rigidity, and bradykinesia. Atypical features may also be present, such as depression, dementia (<3%), and hallucinations. (These are rare in PARK2 related disease)

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: Multiplex Ligation-dependent Probe Amplification (MLPA)
Reference Range:No mutations detected

CPT Coding


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(1)

Specimen Requirements


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

Shipping Considerations


Transport Temperature:Room temperature
Set-up/Analytic Time:14-28 days

Additional Resources

Letters of Medical Necessity

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