Genomic Inform® Testing

Test Description

Test Code – GI001

The Genomic Inform® test is a genetic screening test for generally healthy individuals, 18 years of age or older. This test identifies pathogenic and likely pathogenic variants in nuclear and mitochondrial genes that put an individual at a higher risk of developing a genetic disorder or variants that result in carrier status in a set of selected genes or variants in genes that are known to be pathogenic or likely pathogenic in other genes.

This test includes genes that are medically actionable as recommended by the American College of Medical Genetics and Genomics (ACMG), genetic risk factors, predisposition to cancer and cardiac diseases, bleeding disorders, carrier status in genes known to be associated with severe and early-onset recessive disease (see below), adult/late onset neurological disorders, and other conditions. 

This test does not use an individual’s clinical, personal, or family history in the assessment, reporting, and/or interpretation of variants. If a diagnostic test is preferred, please contact Variantyx for alternative analyses. 

The benefits and risks of the Genomic Inform® test are explained below. It is recommended that you receive genetic counseling from a licensed healthcare provider who can answer your questions about genetic testing and provide information about alternatives. Information about genetic counselors in your area is available through the National Society of Genetic Counselor.

Important points about the Genomic Inform® test:

  • Testing is for the individual only.
  • Diagnostic testing through Variantyx should be considered for individuals suspected to have a genetic condition.
  • We typically accept institutional billing or self-pay payment options.
  • This testing is not a substitute for a carrier screening test and should not be used for prenatal decision making.

When to Order

When an individual wants to know more about their genetic predisposition and risk factors. 

Included Analyses

  • Genome-wide sequence analysis (single nucleotide variants, deletions, insertions, characterized intronic and intergenic variants).
  • Genome-wide copy number changes, including deletions, duplications, inversions, regions of homozygosity, mobile element insertions, and aneuploidy.
  • Mitochondrial genome sequence analysis with heteroplasmy (≥5%) and large deletion analysis. 
  • Short tandem repeat (STR) analysis for adult-onset movement disorders with or without cognitive involvement: AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9ORF72, CACNA1A, CNBP, CSTB, DMPK, FMR1, FXN, HTT, JPH3, NOP56, NOTCH2NLC, PPP2R2B, and TBP.
  • STR analysis for early-onset intellectual disability disorders: AFF2, DIP2B, and FMR1.
  • STR analysis for other disorders: PHOX2B.

Genes Included for Carrier Findings

Test Performance

 %
Sensitivity for SNVs
 %
Specificity for SNVs
 %
Positive predictive value for SNVs
 %
Clinical sensitivity for structural variants

Mitochondrial variants:

Reported when heteroplasmy is ≥5%

Short tandem repeats:

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

CPT Codes

This test is not reimbursable by insurance payers.

Accepted Specimens

Blood

5ml

Saliva

2ml

gDNA

5μg

Contact Us

Please contact customer service for turnaround time and to request a kit.

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