Genomic Inform®

Genomic Inform® is a screening test for healthy adults 18 years of age or older. This test screens for pathogenic and likely pathogenic variants that put the individual at risk of developing a genetic disorder. It also screens for pathogenic and likely pathogenic carrier variants for recessive genetic disorders – variants that on their own do not put the individual at risk of developing a genetic disorder but that may be passed on to a child.

Individuals exhibiting clinical symptoms should not have this test performed and should instead seek diagnostic testing.

When the patient is a healthy adult age 18 years or older and would like information about disease predisposition risk and carrier status.

  • Exome sequence analysis, including characterized intronic and regulatory variants
  • Constitutional del/dup analysis
  • Mitochondrial genome analysis with heteroplasmy (≥5%)
  • Mitochondrial genome large deletion 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, NOP56, NOTCH2NLC, PPP2R2B, TBP
  • Early-onset intellectual disability disorder STR analysis: AFF2, AFF3, DIP2B, FMR1
  • Other disorders STR analysis: PHOX2B, TCF4

Optionally includes:

  • 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.

This test is not reimbursable by insurance payers.

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

Please contact customer service for turnaround time.

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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