One Test, Unwavering Support

Our unique, premium service where we proactively review patient exome data for diagnostic findings in newly characterized genes and issues reclassification reports to ordering clinicians. This is carried out indefinitely and at no additional cost.

How the Program Works

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1. Research Review

Ambry's clinical scientists review the latest findings on gene-disease relationships

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2. Reanalysis

Patients' exome data are reanalyzed, and reclassification reports are issued for new clinically-relevant genes

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3. Revised Reporting

Ordering providers are provided a reclassification report proactively and at no additional cost

Clinicians can also request exome reanalysis for patients previously tested at Ambry based on new phenotypic information.
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Going the extra mile — Ambry's gene and variant classification program

Ambry is one of the few labs that takes additional measures to determine if a gene has sufficient evidence to support its association with disease. Our scientists review gene discovery publications daily and utilize a robust framework to validate and maintain the variant classification database.

~100 new gene-diseases are characterized annually and added to our database.

We proactively reanalyze previously sequenced data to re-classify variants in these newly validated genes.

Ambry-driven reanalysis leads to increased clinically-relevant reclassifications

Our continuous database maintenance and gene-disease validity curation allows for more timely identification of clinically relevant updates and earlier patient management vs. family studies or clinician-initiated reanalysis driven by additional phenotypic data.

Chart legend showing colors for different sections of the chart results Chart showing: 27% Clinician Requests; 73% Proactive Reclassification

Overall, 5% of all negative or uncertain results are upgraded to positive due to gene reclassification

Designed to provide answers across the continuum of care

Following initial results, the ordering provider receives updated reports as new gene-disease associations are validated.

We offer cascade genetic screening for blood relatives of the proband to identify at-risk family members.

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Expert support for better informed medical management

Ambry's clinically knowledgeable Genomic Science Liaisons are available to help interpret results and answer questions each time you receive an updated report.

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Ambry was the first lab to offer clinical exome sequencing. Now with over 10 years of experience, we provide expert analysis, detailed information on novel discoveries, and interpretation for otherwise undiagnosed patients, revealing a clearer path to better informed medical care.

Impacting Medical Management — A Family's Journey

Morgan Turpin, wife and mother of two, shares her family's diagnostic odyssey to identify the cause of her 7-month-old son Shayne's seizures. Exome testing was invaluable in getting a diagnosis and providing options for Shayne's healthcare.

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