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

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.

Otherwise, please continue: