Family Targeted Variant Testing

Targeted testing of variants in biological parents of probands can benefit families by clarifying interpretation of variants. PreventionGenetics offers no-cost targeted testing in certain situations.

We continue to evaluate our test menu and testing options to ensure we are providing the best care for patients while also maximizing efficiencies in our laboratory operations.

This policy focuses on variants where additional parental testing may alter variant interpretation and inform clinical care. For example, de novo variants for autosomal dominant conditions or a pathogenic and variant of uncertain significance on opposite alleles for recessive conditions allows us to apply additional ACMG variant interpretation criteria.

Patients must meet all of the following requirements to qualify for no-cost family testing:

  • The individual originally tested (proband) had full gene, panel, exome, or genome testing at PreventionGenetics.
  • The family member is a biological parent of the proband.
  • The targeted test order and specimen are received within 180 days after the original proband report was issued.
  • For autosomal recessive conditions, no-cost testing only applies to genes where a heterozygous likely pathogenic or pathogenic variant is found in conjunction with a heterozygous variant of uncertain significance.
  • For X-linked and autosomal dominant conditions, no-cost testing only applies to variants of uncertain significance that are absent from population databases, such as gnomAD.
  • Affected/Unaffected status of the biological parent(s) being testing must be indicated on the test order.
  • Variants must be sequence-based (nucleotide substitutions or indels) and within the nuclear genome to qualify for no-cost testing.
  • Variants from sponsored genetic testing programs may not be eligible. Each sponsored test has its own requirements, which are listed on our website.

If targeted testing is being performed prenatally in an ongoing pregnancy, our targeted prenatal testing policy and pricing apply. In cases where a full gene analysis was ordered prenatally, family members qualify for no-cost targeted testing if the other requirements are met.

How to order family targeted testing

Complete pages 1 and 2 of the Targeted Variant Test Requisition Form (TRF), paying special attention to the following:

  • Under patient information, enter the proband's information (PG ID# preferred) into the section that says, "Has patient's relative been previously tested at PreventionGenetics?"
  • Select the appropriate test code for the number of variants being tested and enter the gene and variant information.
  • Check the "no charge" box under the 'Special Instructions' section.