Genomic Unity® Dementia Analysis

Test Description

Test Code – NR010

Dementia is characterized by a decline in cognitive function – such as thinking, reasoning, personality, and memory – that impact daily life. The two most common causes of hereditary dementia are Alzheimer disease and frontotemporal dementia (FTD).

Genomic Unity® Dementia Analysis uses a whole genome sequencing platform to diagnose genetic causes of dementia in 33 genes.

When to order

Order this test when clinical symptoms are consistent with dementia. You also have the option to reflex up to Genomic Unity® Exome Analysis or Genomic Unity® Exome Plus Analysis if targeted analysis is non-diagnostic.

Included Analyses

  • Sequence analysis of dementia-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants)
  • Copy number variant analysis of dementia-associated genes (duplications/deletions, mobile element insertions, and inversions)
  • Short tandem repeat (STR) analysis of FTD and/or ALS-associated gene: C9orf72
  • Risk factor haplotype for APOE

Optionally includes:

Included Genes

Disorders

This test covers many disorders including:

  • Alzheimer Disease
  • Frontotemporal Dementia
  • Hereditary diffuse leukoencephalopathy
  • Lewy body dementia

Test Performance

 %
Sensitivity for SNVs
 >  %
Specificity for SNVs
 %
Positive predictive value for SNVs
 %
Clinical sensitivity for structural variants

Short tandem repeats:

Due to the variable nature of repetitive sequences and sequence-specific differences in detection and repeat evaluation, orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.

CPT Codes

81479 (xN), 81405 (xN), 81406 (xN), 81401 (xN), 81404 (xN)

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Accepted Specimens

Blood

5ml

Saliva

2ml

gDNA

5μg

Turnaround Time

A report will be issued within 4 weeks from receipt of required samples.

Contact Us

Please contact customer service to request a kit.

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