Center for Neuroscience and Genomic Medicine

We are a physician-led genomic second opinion clinic for neurological, neurodevelopmental, psychiatric and multisystem disease.

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.

Consider referral when:

Pharmacogenetic interpretation may affect medication selection, dosing, tolerability, or adverse-effect risk

This may be especially relevant in patients with treatment resistance, multiple medication failures, unusual side effects, polypharmacy, or medications metabolized through pharmacogenetically important pathways.

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 family 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?

Learn about our pricing and payment options

To inquire about pricing or request a case review, please fill out this form

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