Exome & General Genetics

Being diagnosed with a hereditary condition can be scary. That’s why early detection is so important and can make all the difference in the world when it comes to getting in front of a disease.

Know The Basics

Uncovering the genetic causes of disease is at the heart of everything we do at Ambry. That’s why we were the first lab to offer whole exome sequencing. Through Whole Exome Sequencing, (WES), we can identify certain underlying genetic mutations and thereby understand disease better.

By sequencing the whole exome, we are able to look at the part of our DNA where trouble may be lurking. This protein-coding region of our DNA is where 85% of known genetic variations reside and may indicate a disease-causing mutation. Answers can be found in a matter of weeks, helping clinicians to treat their patients quicker, bringing answers at a time when answers are desperately needed.

Genes We Test For and Their Associated Risks

ExomeNext Whole Exome
CMA (chromosomal microarray) Whole Genome

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