Patients

Sequencing vs. Genotyping

Our scientists have been hard at work on a new test we’re calling the Counsyl Test 2.0. What’s different? Well, everything and nothing. You see, we’re still looking for mutations that cause the same 100+ diseases. Where before our technology looked at 400 of the most common mutations for these diseases, our new technology can test for more than 10,000 mutations. Yes, you read that correctly: greater than ten thousand.

How do we do this? We use a technology called Next Generation Sequencing (NGS.) With Counsyl Test 1.0, we look at very specific places on your genome to see if there is a mutation  in your DNA in a specific spot.

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With our new technology, we can look at entire sections of DNA at one time, allowing us to find many more mutations.

It might help to think of an analogy: imagine your DNA is like the ocean, and it takes special technology to investigate what lies beneath the surface.

Imagine that Counsyl Test 1.0 is like a snorkeler. With just a face mask and a snorkel, a person can see many types of fish and coral. In fact, much of what’s interesting is up near the surface. However, this snorkel technology is limited and can only go so deep.

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Counsyl Test 2.0 is like taking our intrepid explorer and giving her SCUBA gear. She can jump into the water in the exact same location. She can swim near the surface and see the exact same fish and coral as snorkelers. She can also go deeper, and see creatures that only live far beneath the surface. This equipment is more expensive, but it allows her to see more deeply than before.

So, there you have it— a quick dive into the difference between genotyping and sequencing. We are proud to now offer both options. As always, the decision about which test is right for you should be made by you and your doctor.

Learn more at counsyl.com.

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