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.
Exome sequence analysis, including characterized intronic and regulatory variants
Constitutional genome-wide del/dup analysis
Mitochondrial genome analysis with heteroplasmy (≥5%)
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, PP2R2B
Early-onset intellectual disability disorder STR analysis: AFF2, AFF3, DIP2B, FMR1
Huntington-related STR analysis (requires special consent): HTT, JPH3
81171x1, 81177x1, 81178x1, 81179x1, 81180x1, 81181x1, 81182x1, 81183x1, 81184x1, 81187x1, 81204x1, 81234x1, 81243x1, 81284x1, 81343x1, 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 ~8 weeks from sample receipt.
Tests which this analysis includes
Genomic Unity® Neurology Analysis
Genomic Unity® Epilepsy Analysis
Genomic Unity® Movement Disorders Analysis
Genomic Unity® Intellectual Disability Analysis
Genomic Unity® Endocrinology Analysis
Genomic Unity® Mitochondrial Analysis