Family Targeted Variant Testing

Targeted testing of variants in relatives of probands can benefit families by clarifying interpretation of variants and by determining carrier status. PreventionGenetics offers no-cost targeted testing for pathogenic, likely pathogenic, and uncertain variants in family members of patients tested at our laboratory under the following conditions.

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 blood relative of the proband.
  • The targeted test order and specimen are received within 180 days after the original proband report was issued.
  • Variants must be sequence-based (nucleotide substitutions and indels) and within the nuclear genome to qualify for free testing. Benign, Likely Benign, Risk, Pseudodeficiency, Mitochondrial Genome, Copy Number, and Structural variants do not qualify. Repeat expansions also do not qualify.
  • Single variants of uncertain significance in autosomal recessive genes do not qualify.
  • Variants listed in the "Additional Variants" tables of our reports, and which are unlikely to be primary causes of disease do not qualify.
  • 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 the original test 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.
Policy effective for reports issued after 6/1/21