Genomic Unity® Exome Analysis

Test Description

Test Code – CP002

The diagnostic odyssey for unexplained genetic disorders is a frustrating and costly process for patients and their families. Potentially unnecessary delays identifying the molecular cause of a person’s symptoms may result in missed opportunities for changes in treatment  and limit inheritance information for family members.

The exome makes up approximately 1%-2% of the human genome; however, 85% of disease causing variants can be found in the exome. Genomic Unity® Exome Analysis takes full advantage of the Genomic Unity® single platform method, providing a full analysis driven by a person’s clinical features of small sequence changes and short tandem repeats expansions in relevant genes. 

Include family member samples for a duo or trio. Order directly, or reflex up from one of the available targeted Analyses.

When to order

Order this test when clinical symptoms can be caused by a wide variety of genes or genetic mechanisms, are suggestive of multiple conditions, are atypical for a certain condition, do not have specific diagnostic genetic test available, or have had previous non-diagnostic genetic testing. 

Included Analyses

  • Whole exome sequence analysis (single nucleotide variants, deletions, insertions, and characterized intronic and regulatory variants)
  • Short tandem repeat (STR) analysis for adult-onset movement disorder, with or without cognitive involvement: AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9ORF72, CACNA1A, CNBP, CSTB, DMPK, FMR1, FXN, HTT, JPH3, NOP56, NOTCH2NLC, PABPN1, PPP2R2B, TBP
  • STR analysis for early-onset intellectual disability disorders: AFF2, DIP2B, FMR1
  • STR analysis for other disorders: PHOX2B, TCF4

Optionally includes:

Test Performance

 %
Sensitivity for SNVs
 >  %
Specificity for SNVs
 %
Positive predictive value for SNVs

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

81415, 81416

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

Turn Around Time

A report will be issued within 10-12 weeks from receipt of required samples.

Contact Us

Please contact customer service to request a kit.

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