Real World Data

Inform your studies with Real World Data from over 2.5 million genetic tests. As leaders in germline testing, Ambry can provide results and insights across multiple therapeutic areas and test types, all provided with consent. Demographic and test order information add context to test data, while detailed clinical and family histories are verified by clinically certified Genetic Counselors. We offer tailored services for our pharma partners including:

Data triggers/weekly alerts
Patient journey mapping
Data tokenization and linking

With 25 years of experience in clinical genetic testing, along with expertise in variant classification and gene-disease association, Ambry understands patients. Use our knowledge to inform your studies and deliver best in class therapies.

Over 2.5 million Patients Tested

>12,000 with clinical diagnostic exome sequencing
>9,000 with chromosomal microarray
>700,000 Pan Cancer Germline Panels
>14,000 Pan Cardio Germline Panels

Clinical Data Contextualizes Results

Test Order & Demographic Data

Panel type & genes tested
Institution & provider level details
Patient sex, age, ethnicity, geography

Clinical Data

Detailed clinical history for probands
Family history included
ICD-10
Extracted with consent from detailed medical records by clinically trained Genetic Counselors

Uncover Insights from Exome and Microarray Testing

Exome Sequencing

Primary findings data for proband
Secondary findings (ACMG) for proband and family members
Trio testing (uncharacterized gene analysis) and segregation data on majority of cases

Chromosomal Microarray

Proband reportable findings including:
Copy number variant classification
Type
Size
Gene content
Chromosomal location

Real World Data

Over 2.5 million Patients Tested

Clinical Data Contextualizes Results

Test Order & Demographic Data

Clinical Data

Uncover Insights from Exome and Microarray Testing

Exome Sequencing

Chromosomal Microarray

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