DNA report

Choosing the right genetic test involves balancing cost and how much information you get out of them.
Genetic tests have become a routine way to confirm a suspected diagnosis. They may allow a doctor to pinpoint exactly what is causing your symptoms. But your DNA is made up of 6 billion units of information. There’s still a lot we don’t know. Only about 30% of patients that get a genetic test will get an answer.
The type of test you get matters.
Depending on what type of genetic testing you’ve already done it might be time to consider a genetic test that covers more of your DNA.
Here we list out the different types of genetic tests available and when to consider them.

Types of Genetic Tests

Chromosomal Microarray:
Cost: Typically $1500-$2000
Insurance Coverage: Usually available, and may depend on your symptoms.
Who this is for: Done either prenatal or for children if there is suspicion of genetic disease.
What it covers: All of your DNA, but its looking for a missing piece of DNA or an extra piece of DNA that is bigger in scale than those tested by the other tests listed below.

Panel test:
Cost: Sometimes free if a pharma company is interested in your condition, check with Probably Genetic or Invitae. Invitae offers panel testing for a maximum out-of-pocket cost of $150.
Insurance Coverage: Usually available, but may depend on your symptoms.
Who this is for: Confirming a suspected diagnosis because you’ve had symptoms or lab results that are clear markers
What it covers: Usually 100-200 genes out of 20,000 genes. This represents less than 0.01% of your total DNA.

Whole Exome Test:
Cost: Can cost $1000-2000 depending on lab provider. GeneDx is one of the more popular companies for this type of test due to the level of human curation that goes into each lab report. 
Insurance Coverage: Limited coverage, more often covered for babies or children.
Who this is for: Someone who already had a panel test that didn’t give a clear answer or someone with complicated symptoms that made it difficult to narrow down test to a small panel.
What it covers: Usually 20,000 genes. This represents less than 2% of your total DNA. Typically ~85% of disease-causing mutations will be found in this 2%.

Whole Genome Test:
Cost: Can cost $1000-2000 depending on lab provider
Insurance Coverage: Very limited coverage, some insurance companies like Blue shield have started offering this for babies. Rady’s Children’s Hospital and Stanford Medicine have both developed impressively fast versions of this test for baby’s in intensive care units. (Typically takes months, they take hours). Rapid test is also commercially available at GeneDx. 
Who this is for: Someone who already had a panel test and exome that didn’t give a clear answer or someone with complicated symptoms that made it difficult to narrow down test to a small panel. Also used for urgent, critical care cases in newborns.
What it covers: While whole genome testing will cover all (or most) of your DNA, it will also find a bunch of changes with very little information about them which sometimes makes analysis more complicated. Compared to whole exome testing, ~12-15% of disease-causing changes would be expected to be reported in whole genome testing even though most of these will not have enough information in clinical databases to lead to a diagnosis.

Trio family exome genetic testing:
Cost: Can cost $1000-2000 depending on lab provider
Insurance Coverage: Limited coverage, more often covered for babies or children.
Who this is for: Someone who already had a panel test that didn’t give a clear answer or someone with complicated symptoms that made it difficult to narrow down test to a small panel. Testing family members in addition to the patient can decrease the number of DNA changes that are detected by mistake and helps decide which mutations to focus on.
What it covers: Usually 20,000 genes. This represents less than 2% of your total DNA. Typically ~85% of disease-causing mutations will be found in this 2%.

Had a genetic test but feeling lost?

Lamar Health provides a variety of services for both diagnosed and undiagnosed genetic patients. 
Detailed research from PhDs in Genetics, Genetic Counselors and Medical Geneticists on your condition explained simply, clinical trial alerts and monthly checks for new information on your DNA changes that were scored as uncertain in your report. Our mission is to help patients get the information they need as soon as it’s available to get you the best care. 

Learn more here.
Eesha Sharma

Written By: Eesha Sharma

Genetics Ph.D., Stanford Alumni

Sister of Rare Disease Patient

CEO, Founder

Lamar Health

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