• Test Code:
    2240
  • Department:
  • Test Synonyms:
    ParkinsonsATP13A2ATP1A3CSF1RDCTN1FBXO7GBAGCH1LRRK2MAPT PARK2PARK7PINK1PLA2G6POLGSLC6A3SNCATAF1THVPS35
  • CPT Code(s):
    8140581406x48140881479x13
Background:

Neurological disorders include a large group of conditions with genetic and phenotypic heterogeneity and often have overlapping clinical features, such as intellectual disability, seizures, microcephaly, motor disability, brain malformations (lissencephaly, molar tooth sign), vision loss, speech difficulties, and respiratory failure. Parkinson’s disease is a type of neurological disorder characterized by tremor, muscle rigidity, bradykinesia, and postural instability. The prevalence of Parkinson’s disease in the United States is estimated at 13:100,000. This next-generation sequencing test is designed to detect mutations in the coding region of 19 genes associated with Parkinson Disease.

Reasons for Referral:

  • Clinical presentations of Parkinson’s disease including: tremors, abnormal movements, bradykinesia and/or rigidity.
  • Positive family history (targeted testing is available if familial mutation is known)
  • Carrier testing

Methodology:

Next generation sequencing using Illumina NextSeq 500 technology of the 19 Parkinsons-associated genes listed below:
 
Parkinsons Disease Panel (19 genes): ATP13A2, ATP1A3, CSF1R, DCTN1, FBXO7, GBA, GCH1, LRRK2, MAPT, PARK2, PARK7, PINK1, PLA2G6, POLG, SLC6A3, SNCA, TAF1, TH, VPS35

Specimen Requirements:

 Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. Gene Reviews:

          a. Farlowet al., 2014, http://www.ncbi.nlm.nih.gov/books/NBK1223

  2. Genetic Home Reference:

          a. http://ghr.nlm.nih.gov/condition/parkinson-disease

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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