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Alzheimer's Disease, Familial via the PSEN1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
6921 PSEN1 81405 81405,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
6921PSEN181405 81405,81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Familial Alzheimer's disease (FAD) is a neurodegenerative disorder characterized by onset of dementia before 60 years of age. Dementia initially presents in FAD patients as short term memory problems or disorientation between 30 and 60 years of age. Cognitive decline is observed over the next 10-20 years with apraxia, progressive memory loss and impaired spatial skills being common presentations (Wallon et al. 2012). Motor disturbances such as cerebellar ataxia and spastic paraparesis are also observed in a subset of patients. The key neuropathology of FAD includes: amyloid plaques, neurofibrillary tangles, neuronal loss and brain atrophy (Wu et al. 2012). An important feature of the FAD diagnosis is that an individual has at least one affected family member.


FAD is inherited in an autosomal dominant manner and can be caused by mutations in the PSEN1 gene. Most causative PSEN1 variants are missense mutations distributed throughout the gene, though frameshift mutations, splice site mutations and large deletions in PSEN1 have also been identified in FAD patients (Rogaeva et al. 2001; Janssen et al. 2003).

PSEN1 encodes the presenilin-1 (PS1) protein. PS1 is the catalytic subunit of the gamma-secretase complex which cleaves the Alzheimer's-associated alpha-beta precursor protein (APP). APP undergoes sequential processing to produce two amyloid-beta isoforms: AB40 and AB42. Accumulation of characteristic amyloid-beta plaques in FAD patients are associated with improperly processed APP, specifically increased ratios of the AB42 isoform relative to AB40 (Kumar-Singh et al. 2000). PSEN1 mutations are believed to act in a dominant negative manner to interfere with wildtype PS1 activity and to cause FAD via impaired APP processing by gamma-secretase (Nornes et al. 2007; Heilig et al. 2013).

Clinical Sensitivity - Sequencing with CNV PG-Select

In a study of patients with Alzheimer's disease ~11% (48 of 414) had PSEN1 mutations. Of these, 80% had age of onset PSEN1 mutations in FAD cases to be ~50% (32/56 and 16/31) (Wallon et al. 2012; Janssen et al. 2003).

Testing Strategy

This test provides full coverage of all coding exons of the PSEN1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

PSEN1 testing should be considered for individuals with early onset dementia who have at least one affected family member. PSEN1 testing can also determine carrier status of individuals for a known familial mutation.


Official Gene Symbol OMIM ID
PSEN1 104311
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Alzheimer's Disease, Type 3 AD 607822
Frontotemporal Dementia AD 600274

Related Tests

Alzheimer's Disease, Familial, Panel
Frontotemporal Dementia via the MAPT Gene


  • Heilig EA, Gutti U, Tai T, Shen J, Kelleher RJ. 2013. Trans-Dominant Negative Effects of Pathogenic PSEN1 Mutations on -Secretase Activity and A Production. Journal of Neuroscience 33: 11606–11617. PubMed ID: 23843529
  • Janssen JC. et al. 2003. Neurology. 60: 235-9 PubMed ID: 12552037
  • Kumar-Singh S. et al. 2000. Human Molecular Genetics. 9: 2589-98. PubMed ID: 11063718
  • Nornes S, Newman M, Verdile G, Wells S, Stoick-Cooper CL, Tucker B, Frederich-Sleptsova I, Martins R, Lardelli M. 2007. Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity. Human Molecular Genetics 17: 402–412. PubMed ID: 17981814
  • Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, et al. 2001. Screening for PS1 mutations in a referral-based series of AD cases: 21 Novel mutations. Neurology 57: 621–625. PubMed ID: 11524469
  • Wallon D. et al. 2012. Journal of Alzheimer's Disease. 30: 847–856 PubMed ID: 22475797
  • Wu L. et al. 2012. The Canadian Journal of Neurological Sciences. 39: 436–445 PubMed ID: 22728850


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Backbone)

1) Select Test Type

2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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