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)
- Short tandem repeat (STR) analysis of the specified gene(s), when relevant
Optionally includes:
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.
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
Blood
5ml
Saliva
2ml
gDNA
5μg
