Genomic Unity® Custom Analysis

Test Description

Test Code – CA001

With our custom analysis, you can build your own Genomic Unity® test using a whole genome platform. Genomic Unity® Custom Analysis provides the flexibility to select up to ~250 genes from a list of >4,000 medically-relevant genes.

When to order

Order this test when clinical symptoms suggest testing for a specific gene or set of genes, clinical features affect multiple body systems, or when you need different variant types analyzed in one report from a single sample. You also have the option to reflex up to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis if targeted analysis is non-diagnostic.

Included Analyses

  • Sequence analysis of the specified gene(s) (single nucleotide variants, deletions, insertions, and characterized intronic and regulatory variants)
  • Copy number variant analysis of the specified gene(s) (duplications/deletions, mobile element insertions, and inversions)
  • Short tandem repeat (STR) analysis of the specified gene(s), when relevant

Optionally includes:

Included Genes

Genes may be selected from the list below. Please contact us for more information if a gene of interest is not listed below.

Test Performance

The selected genes are filtered from a whole genome analysis and variants not included in the regions of interest will be masked from analysis and reporting. Therefore, the performance characteristics are based on Genomic Unity® Whole Genome Analysis. Since this is a custom analysis, the genes may not have been curated and assessed for clinical relevance and utility, and special interpretations for unique variants may not be identified.

 %
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

Varies by gene(s) specified.

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

Variantyx Blood

Blood

5ml

Variantyx Saliva

Saliva

2ml

Variantyx DNA

gDNA

5μg

Contact Us

Please contact customer service for turnaround time and to request a kit.

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