• Test Code:
    1250
  • Department:
  • Test Synonyms:
    AlzheimerEarly onset AlzheimerALS2ANGAPOEAPPC9ORF72CHMP2BCSF1RDCTN1FIG4 FUSGRNMAPTOPTNPRNPPSEN1PSEN2SETXSORL1TARDBPTREM2VCP
  • CPT Code(s):
    81406
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.

*This panel does NOT include C9orf72 hexanucleotide repeat expansion analysis. 

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 
*C9orf72 hexanucleotide repeat expansion not performed

Specimen Requirements:

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

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL
Saliva: 2 ORAgene Saliva Kits (OGR-500) used according to manufacturer instructions.  Please contact KDL Client Services for a Saliva Collection Kit for patients that cannot provide a blood sample.

Assisted Saliva: 4 ORAgene Assisted Saliva Kits (OGR-575) used according to manufacturer instructions.  Please contact KDL Client Services for an Assisted Saliva Collection Kit for patients that cannot provide a blood sample.

Skin Fibroblast: Punch Biopsy (cell cultures will be prepared at KDL and used for testing), or 2 T-25 confluent flasks.

DNA: 1-2µg at a minimum of 50-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS).

For routine testing of blood and saliva (or DNA extracted from them), KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion. For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab.


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. Bird TD. Alzheimer Disease Overview. 1998 Oct 23 [Updated 2018 Dec 20]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: 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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