• Test Code:
    1250
  • Department:
  • Test Synonyms:
    AlzheimerEarly onset AlzheimerALS2ANGAPOEAPPC9ORF72CHMP2BCSF1RDCTN1FIG4 FUSGRNMAPTOPTNPRNPPSEN1PSEN2SETXSORL1TARDBPTREM2VCP
  • CPT Code(s):
    814038140481405x281406x881479x9
Background:

Alzheimer disease is characterized by progressive dementia, amyloid plaque build-up in the brain and neurodegeneration. Symptoms may include memory loss, confusion, hallucinations, and possible jerking or other Parkinsons-like features. Hereditary early onset Alzheimer disease is characterized by familial dementia beginning before 60 years of age. These disorders are typically autosomal dominant. This next generation sequencing test will assess the coding regions for 21 genes associated with dementia.

Reasons for Referral:

  • Family history of dementia before the age of 60
  • Confirmation of a clinical diagnosis
  • Carrier testing

Methodology:

Next generation sequencing will analyze the exons or coding regions of 21 Dementia-associated genes using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

The 21 Dementia-associated genes are listed below:
ALS2, ANG, APOE, APP, C9ORF72, CHMP2B, CSF1R, DCTN1, FIG4, FUS, GRN, MAPT, OPTN, PRNP, PSEN1, PSEN2, SETX, SORL1, TARDBP, TREM2, VCP 

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. Alzheimer’s Association: http://www.alz.org/what-is-dementia.asp
  2. GeneReviews : Alzheimer Disease Overview: http://www.ncbi.nlm.nih.gov/books/NBK1161/

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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