Genomic Unity® Exome Analysis

CP002

The diagnostic odyssey for unexplained genetic disorders is a frustrating and costly process for patients and their families. Unnecessary delays in identifying the molecular cause of the symptoms result in potentially missed opportunities for changes in treatment for the patient as well as missed screening opportunities for family members.

Genomic Unity® Exome Analysis takes full advantage of the Genomic Unity® single platform method, providing a full, phenotypically driven analysis of small sequence changes in relevant genes and short tandem repeats expansions.

Order directly, or reflex up from one of the available targeted analyses.

Traditional practice advocates ordering this test when the patient exhibits phenotypes with significant genetic heterogeneity that are suggestive of multiple conditions or are otherwise unclear or atypical. Or when a specific genetic test is not available and/or prior genetic testing has been unsuccessful.

As conventional wisdom is evolving, this test can alternatively be ordered as the first line of diagnosis when a genetic etiology is suspected.

  • Exome sequence analysis, including characterized intronic and regulatory variants
  • Adult-onset movement disorder (with or without cognitive involvement) STR analysis: AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9ORF72, CACNA1A, CNBP, CSTB, DMPK, FMR1, FXN, NOP56, NOTCH2NLC, PABPN1, PPP2R2B, TBP
  • Early-onset intellectual disability disorder STR analysis: AFF2, DIP2B, FMR1
  • Other disorders STR analysis: PHOX2B, TCF4


Optionally includes:

  • Huntington-related STR analysis (requires special consent): HTT, JPH3


Optional add-ons:

  • Genomic Unity® Mitochondrial Genome Analysis (CP003)
  • Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis (CP004)

SNVs and Indels up to 50bp

99.1% sensitivity

99.2% positive predictive value

Short tandem repeats:

Due to the variable nature of repetitive sequence and sequence specific differences in detection, repeat evaluation and orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count. 

81415, 81416 (xN)

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.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 10-12 weeks from sample receipt.

Please do not submit Protected Health Information (PHI) through this email address.

If you need to submit Protected Health Information (PHI), please call us at 617-209-2090 and we will work with you to submit the information through an alternate mechanism.

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