+RNAinsight
Concurrent DNA/RNA testing for improved variant detection and classification
Company profile
Company profile
Ambry Genetics is an industry-leading clinical genetic testing laboratory with over 20 years of scientific innovations and discoveries. The company enables healthcare professionals to make informed care decisions by providing advanced genetic testing solutions across multiple therapeutic areas including hereditary cancer, rare diseases, cardiovascular conditions, and neurological disorders. Ambry's comprehensive testing portfolio includes their signature +RNAinsight technology, which pairs DNA and RNA testing to improve variant detection and classification, particularly helping to resolve variants of uncertain significance and reduce evidence gaps in non-White populations. The company operates a 65,000 square foot CLIA-approved, CAP-certified laboratory equipped with state-of-the-art sequencing platforms including Illumina MiSeq, NextSeq 500 Dx, NovaSeq 6000, and PacBio Revio systems. Ambry serves healthcare providers, pharmaceutical companies, academic institutions, and patients through multiple service lines including clinical testing, pharma services for drug development, and sponsored testing programs. Their CARE Program (Comprehensive Assessment, Risk & Education) is an end-to-end digital health solution designed to identify patients at increased risk for certain health conditions who may qualify for genetic testing. The company maintains ISO 13485 and ISO 15189 standards and holds SOC2 certification. Ambry's Patient for Life program provides proactive reanalysis of exome testing at no additional cost as new gene-disease discoveries are validated. The company has established partnerships with organizations including Caris Life Sciences, MDxHealth, and Volpara Solutions, and works extensively with academic and commercial partners to advance the understanding of human disease through genetic research.
Company description Ambry Genetics official website
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01 · Operating footprint
Company-profile context for clinical focus, customers, deployment, integration, milestones, and partnerships.
Cloud Saas · Other deployment with recorded integration context.
Company milestones
CARE Program named 2026 MedTech Breakthrough Winner among 5,000+ global nominations for excellence in digital health and medical technology. Hereditary Cancer Testing Menu updated May 2026. Research published in Genetics in Medicine on ExomeReveal RNA testing improvements.
Partnerships
02 · Flagship portfolio
Selected source-backed Company products and the available commercial context.
Concurrent DNA/RNA testing for improved variant detection and classification
Sponsored no-charge hereditary testing partnership program
Online portal for test ordering and result reporting
End-to-end digital health solution for patient risk identification and genetic testing
Cancer risk classification technology
Exome testing with RNA analysis for improved diagnostic clarity
Free proactive exome reanalysis as new gene discoveries are validated
Genetic testing and data services for drug development and clinical trials
03 · Research intelligence
Publications, preprints, clinical validation, and regulatory records in Evidence Position order.
Publications, clinical validation, and regulatory records connected to this Company appear here.
Research
Animal genetics · Oct 1, 2026
An update on APC I1307K homozygosity: observations from a large multigene panel testing cohort.Familial cancer · Sep 17, 2026
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.Molecular psychiatry · Sep 16, 2026
Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood.American journal of medical genetics. Part A · Sep 11, 2026
Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.American journal of human genetics · Sep 4, 2026
Cost-effectiveness of BRCA1/BRCA2 Variant Reclassification and Recontact for Hereditary Breast and Ovarian Cancer in the United States.Genetics in medicine : official journal of the American College of Medical Genetics · Aug 26, 2026
Clinical validation
NCT04330716 · Sponsor · COMPLETED
Clinical Implementation of a Polygenic Risk Score (PRS) for Breast CancerNCT03688204 · Sponsor · COMPLETED
COVID-19 and SARS-CoV-2 Detection in SalivaNCT04517682 · Sponsor · COMPLETED
Early Prostate Cancer: Predicting Treatment ResponseNCT03770351 · Mentioned · UNKNOWN
Utilizing a Multi-gene Testing Approach to Identify Hereditary Pancreatic CancerNCT02790944 · Sponsor · COMPLETED
Regulatory
No linked records are currently available.
04 · Company-reported outcomes
Company-reported outcomes and customer stories are distinct from linked Research Intelligence evidence.
+RNAinsight paired DNA/RNA testing
RNA functional data analysis
+RNAinsight technology approach
Patient affordability program
Patient out-of-pocket costs
Commercial partnership for molecular science and precision medicine
Improving diagnostic clarity in exome testing through RNA analysis
ExomeReveal RNA analysis resolves ambiguity around uncertain variants
Partnership to increase genetic testing within the urology market
Partnership combining advanced technology platform with healthcare provider expertise for personalized cancer screening
05 · Leadership
Leadership profiles and professional links from the current Company record.
No active leadership profiles are currently listed.
06 · Company updates
Recent articles published on Ambry Genetics's official website.
07 · HAIC coverage
Health AI Central reporting that mentions this Company.
No HAIC coverage is currently linked to this Company.
08 · Official presence
Curated official destinations from the active Company record.
09 · Market pathway
Other active Companies in the same market, selected alphabetically from the HAIC directory.
Market context
Companies using AI to analyze genomic, proteomic, metabolomic, or multi-omics data to provide personalized treatment recommendations, identify genetic risks, or develop targeted therapies. Includes genomic sequencing platforms with AI analysis, preventive medicine based on genetic risk assessment, and longevity care based on molecular and genetic data.
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