Alzheimer and Dementia NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

The Alzheimer-Dementia Panel examines 16 genes associated with an increased risk of developing neurodegenerative conditions: Alzheimer’s disease and genetic disorders that cause dementia. This analysis also includes examination of C9orf72 repeat expansions by repeat-primed PCR (rpPCR), but does not include C9orf72 methylation studies.

Patients with a personal and/or family history of Alzheimer’s disease and dementia. Warning signs of these diseases include, but are not limited to: abnormal imaging of the brain, difficultly moving or controlling one’s movement, memory loss that interferes with daily life, changes in mood and personality, difficulty having a conversation or completing familiar tasks, and confusion with the time or place.

Patients identified with a disease-causing change (a pathogenic or likely pathogenic variant) in a gene on this panel have an increased risk of developing the associated neurodegenerative disease. Genetic testing may be beneficial in the planning and decision-making process for treatment, psychosocial counseling, and support programs for caregivers and patients. Your patient’s family members can also be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, and parents) are up to 50% more likely to also be at increased risk.

Test Description

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • Duo/Trio
3 - 5 weeks
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APOE, APP, C9orf72, CSF1R, DNMT1, EIF4G1, GBA, GRN, MAPT, PRNP, PSEN1, PSEN2, SNCA, SNCB, TREM2, TYROBP ( 16 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

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