Genomic Unity® Exome Plus Analysis

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 Plus Analysis takes full advantage of the Genomic Unity® single platform method, providing a full, phenotypically driven analysis of all relevant genes and variant types.

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.

In particular, consider ordering before single gene, multi-gene panel and/or exome testing has been performed for the highest likelihood of prior authorization approval.

checkmarkExome sequence analysis, including characterized intronic and regulatory variants

checkmarkConstitutional del/dup analysis

checkmark Mitochondrial genome analysis with heteroplasmy (≥5%)

checkmark 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, PPP2R2B, TBP

checkmarkEarly-onset intellectual disability disorder STR analysis: AFF2, AFF3, DIP2B, FMR1

checkmarkOther disorders STR analysis: PHOX2B, TCF4

Optionally includes:

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

SNVs and Indels up to 50bp
99.1% sensitivity
99.2% positive predictive value

Structural variants:
96% clinical sensitivity

Mitochondrial variants:
Reported when heteroplasmy is ≥5%

Short tandem repeats:
Full mutation tandem repeats, and in some cases intermediate and/or premutation repeats, are reported with the number of repeats. All reported tandem repeat expansions are confirmed by an orthogonal technology.

81171x1, 81177x1, 81178x1, 81179x1, 81180x1, 81181x1, 81182x1, 81183x1, 81184x1, 81187x1, 81204x1, 81234x1, 81243x1, 81284x1, 81343x1, 81344x1, 81415x1, 81416x2, 81460x1 (81271x1)

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 6-8 weeks from sample receipt.

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