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