Variant Resolution Program

Parental testing can help clarify the clinical significance of some likely pathogenic or uncertain genetic variants. Bionano Laboratories offers a parental testing program for genetic variants identified on our tests when classification could be impacted by inheritance data. The testing provided by this program is clinical grade but done at no cost to families through an IRB-approved research protocol (Western IRB Protocol #20212542).


This program is available under the following conditions in order to provide the most comprehensive information when assessing classification of a proband’s test result:

      • The proband received testing through Bionano Laboratories (formerly Lineagen).

      • Results including a copy number variant or sequence variant classified as Uncertain Significance or Likely Pathogenic will state whether the variant is eligible for this program. Pathogenic and Carrier Status variants are not eligible for this program.

      • Test orders and samples for both biological parents must be received by Bionano Laboratories within 1 year of the proband test result.

      • Phenotypic information for each parent submitted must be provided on the test order form or with accompanying clinical records.

      • Accurate collection and representation of parental relationship is the participant and ordering provider’s responsibility. The methodology used involves a targeted assessment meaning that parental relationship to the proband will not be confirmed.

How To Order

      • Complete the test order/consent form for each parent being tested: Variant Resolution Program Requisition Form

      • Collect a buccal sample for each parent using a Bionano Laboratories sample collection kit and return with the completed paperwork via FedEx.

      • If both parents are not present for sample collection, return the completed paperwork via fax to 801.931.6201 or secure upload ( and Bionano Laboratories will ship a kit to the family’s home with a prepaid return label. Return of the samples is the parent or ordering provider’s responsibility.

Testing Timeline And Reporting

      • Copy number variants will be assessed by chromosomal microarray with analysis targeted for the eligible variant(s).

      • Sequence variants will be assessed by one of the following methods: next generation sequencing, Sanger sequencing, quantitative PCR, repeat-primed PCR, or multiplex ligation-dependent probe amplification.

      • Approximately 4-5 weeks after completed paperwork and samples are received, an updated proband result will be issued with parental inheritance information included for the eligible variant(s).

      • If the variant has been reclassified due to this additional information, this information will be included with the updated report.


      • If a variant is not eligible for this program, clinical targeted testing is available using our supplemental test requisition form. Patient pay and/or insurance billing are available.

      • For questions related to eligibility of a variant, or justification to complete testing on a single biological parent, please contact our genetic counseling team at