Consider a referral when

The Genetic Report Does Not Explain the Patient

A genomic second opinion may be useful when prior genetic testing did not provide a clinically satisfying explanation, or when the patient’s presentation appears broader than the findings reported by the original laboratory.

Prior WES/WGS testing was negative, inconclusive, or did not change management

A “negative” report does not always mean that the genome contains no clinically relevant findings; it may reflect limitations of coverage, filtering, interpretation, phenotype matching, or the scope of the original analysis.

A prior report identified one finding, but the finding does not explain the full phenotype

Many complex patients have blended or multilayered presentations, where one variant may explain part of the clinical picture while additional findings may contribute to seizures, inflammation, medication intolerance, regression, or other treatable features.

The patient has a suspected blended phenotype

In some cases, the clinical presentation may reflect more than one genetic contribution, including a primary neurodevelopmental disorder plus additional variants affecting immune function, metabolism, mitochondrial vulnerability, cardiac risk, or drug response.

The patient already has VCF, BAM, FASTQ, WES, or WGS data and wants physician-supervised reanalysis

Existing genomic data can often be reinterpreted in light of updated databases, new literature, improved algorithms, and a more detailed clinical history.

How do we compare with other sequencing and data interpretation laboratories?

Please see a comparison table below.

Learn about our pricing and payment options

To inquire about pricing or request a free preliminary case screen, please fill out this form

Important Notice:

The free preliminary case screen is not a full genomic interpretation, does not include a written GenomeDDx™ Report, and should not be used for diagnosis, treatment, medication changes, or other medical decisions. Please do not submit protected health information through the general contact form..

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