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.

While Genomic Unity® Custom Analysis can be ordered as a one-off test for an individual patient, if you have a routine need to order a specific test for your patient population that is not covered by our current test portfolio, we are happy to work with you to develop a custom test that meets your unique specifications.

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 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 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)
  • Repeat expansion 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

Repeat expansions :

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



Specimen Requirements



Specimen Requirements



Specimen Requirements

Contact Us

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

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