Genomic Unity® Dementia Analysis

NR010

Genomic Unity® Dementia Analysis is a diagnostic test designed to identify genetic variants that cause dementia.

Test Description

Genomic Unity® Dementia Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on 34 genes associated with dementia.

Genomic Unity® Dementia Analysis provides a single, unified clinical report that replaces a battery of tests including: targeted gene panel, single gene analysis and multiplex ligation dependent probe amplification (MLPA), as well as PCR and southern blot tests for short tandem repeat expansions.

When to Order

Order this test when clinical symptoms are consistent with dementia.

Included Genes

ABCA7, APOE, APP, C9ORF72, CHCHD10, CHMP2B, CSF1R, DCTN1, DNMT1, EIF4G1, FUS, GBA, GRN, HNRNPA2B1, ITM2B, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, RNF216, SIGMAR1, SNCA, SNCB, SORL1, SQSTM1, TARDBP, TBK1, TREM2, TUBA4A, TYROBP, UBE3A, UBQLN2, VCP

Included Analyses

  • Sequence analysis of dementia associated genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Copy number variant analysis of dementia associated genes including: duplications/deletions, mobile element insertions, and inversions.
  • Short tandem repeat (STR) analysis of the C9ORF72 gene. (Learn more).
  • APOE status.

Optionally includes:

Turnaround Time

A report will be issued within 4 weeks. Turnaround time begins when samples and all required documents and approvals are received.

Sample Types

CPT Codes

81401, 81404, 81405, 81406, 81479

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.

Methods and Limitations

Genomic Unity® Dementia Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
99.9% sensitivity
99.9% specificity
99.8% positive predictive value

Structural variants:
96% clinical sensitivity

Short tandem repeats:
The false negative rate for repeat expansions has not been determined.

Test limitations:
The GBA gene is not fully covered by this test, therefore not all pathogenic variants may be detected. The APOE genotype is provided for informational purposes only. No interpretation regarding risks associated with this gene are reported. Short tandem repeats are not reported in the PRNP gene.