Targeted variant testing
Targeted variant testing focuses on testing individuals for genetic variants that have been previously identified in biological relatives or for confirming research findings. We offer testing using a variety of methodologies and for a range of indications, including prenatal testing, so you can find the right option for your patient.
Targeted variants
Test #100, 200, 300, 990
We offer testing for sequence variants for any of the genes on our test menu. Test for one, two, or three variants. Testing of a positive control is encouraged, and provided at no additional charge. Negative results without a positive control will include a limitation statement on the report.
Prenatal testing requests for targeted variants (Test code 990) requires positive controls and is included for no additional charge. For details on prenatal testing, please see our prenatal guidelines.
Mitochondrial genome via NGS
Test #14028
To order family follow-up for mitochondrial genome via NGS, please order Test Code 14028. Only the variant of interest (VOI) will initially be reported, but reflexing to the entire mitochondrial genome is available upon request for no additional charge.
Targeted testing of variants in biological parents of probands—individuals who are the first in a family to be diagnosed with a particular genetic condition—can be helpful for families by providing clearer insights into the interpretation of variants. PreventionGenetics offers no-cost targeted testing in certain cases to support families during this process.
To qualify for no-cost family testing, patients must meet all the following requirements:
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.
Note: If targeted testing is being performed during an ongoing pregnancy, our targeted prenatal testing policy and pricing will apply. In cases where a full gene analysis was ordered prenatally, family members may qualify for no-cost targeted testing if the other requirements are met.
How to order no-cost family targeted testing
Follow these steps to order.
1
Order online or by paper
Log into myPrevent or download the Targeted Variant Test Requisition Form (TRF) to start your order.
2
Select test
Select the appropriate test code for the number of variants being tested and enter the gene and variant information.
3
Enter family information
When asked if family member has previously been tested at PreventionGenetics, select Yes and provide their information. Check the "no charge box" on the paper form.
Experienced support at every step
Our team of experts can help you explore testing options, place an order, ship a sample, and understand results.