• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Alzheimer • Early onset Alzheimer • ALS2 • ANG • APOE • APP • C9ORF72 • CHMP2B • CSF1R • DCTN1 • FIG4 • FUS • GRN • MAPT • OPTN • PRNP • PSEN1 • PSEN2 • SETX • SORL1 • TARDBP • TREM2 • VCP
  • CPT Code(s):
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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

For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.

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

Methodology:

 

Specimen Requirements:

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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/

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