Genetic Tests Are Not All Alike

I recently submitted a sample to 23andMe.com for genetic testing. My main reason was to find out if they find any genes present that might cause diabetes, Alzheimer’s disease, breast cancer, and others, but I must admit the ancestry report is also fascinating to review. 

My sister also submitted a sample about two months before me. Although both of us have been genetically tested for FH with medical tests ordered by our specialists, and we have both been formally (genetically) diagnosed with FH (I am Homozygous version and she is Heterozygous), both of us received a “Variants not detected” result from 23andMe for FH. They do disclose on their site that there are over 1000 genes responsible for an FH mutation and they only test 24 of them, so it’s understandable that they would not always find the variant one might have. As a matter of fact, I guess they most likely will not find a mutation. 

I was tested by Ambry Genetics about 5 years ago, and if you want to review their testing principles and approach you can find more information here (https://www.ambrygen.com/providers/genetic-testing/13/cardiology/fhnext#:~:text=Test%20Description,genes%20associated%20with%20familial%20hypercholesterolemia). 

I am not giving them a plug, by no means: Ambry Genetics happened to be the provider of genetic testing that my cardiologist worked with at the time I requested the test. There are other providers out there and your doctor might guide you through the process. 

My sister was tested in Canada, and I don’t know the name of the company they used because apparently doctors there are not as transparent as those here, in the US. Her cardiologist just informed her that her genetic test came back as confirming the FH diagnosis. 

The cost for Ambry genetics was $500 and it came out of my pocket, although requested by my doctor. The cost for 23andMe was $200. I know a lot of folks who order a 23andMe test kit because it’s wildly popular and available and the cost is much lower than a specialized test. But just wanted to share that you need to look into the principles of testing and the scope of each one to understand the results and not take them as absolutes. 

Hope this is helpful.