Sano Genetics Exome Sequencing

In a previous post about Lumminary's Exome Sequencing I said I was going to get tested with Sano as well since I wasn't too happy with Lumminary. There was a bit of a delay in the last stage of the process that I suspect was caused by Covid but the results still came in about …

I might have myopathy

If you have read my previous post Unusually Tight Muscles then you will know that since I was 5 I have had persistent symptoms of tightness and weakness in my leg muscles. When I decided to get whole genome sequencing done last year, looking for a possible explanation for these symptoms was something I wanted to …

Unusually Tight Muscles

When I was 5 I started getting a lot of pain in my leg muscles and lower back. Over the following 2 years I lost some flexibility in my legs. I also seemed to be a little slower and weaker than I had been previously. I particularly remember that at the beginning of Infant School …

The Circle DNA Autism Report

My last post was about getting the Circle DNA Test. If you read that post you will know that this test uses Exome Sequencing which covers a great deal more of the genome that tests like 23andme. I have now received the results, actually I received the results over two months ago but it seems …

Getting the Circle DNA test

I just got my sample kit for the Circle DNA test and I just had to write a blog post. The kit is packaged up really nicely in a shiny and black box. You even get a bracelet. My dreadful photo below really doesn't do it justice. I have some reservations about this test, mostly …

Lumminary Whole Exome Sequencing

I decided to get Exome sequencing so i could compare the results to the data I got from Dante Labs. I chose Lumminary based on the price and I foolishly did not check to see if there were any reviews on them. If I had I would have discovered very little has been written about …

Dante Labs Whole Genome Sequencing

In November 2019 I finally got my results from Dante Labs after waiting since February 2019. I was a little concerned this length of time meant my sample was just sitting for too long and may have degraded a bit. However the results seem to match up reasonably well with my 23andme data so I …

MECP2 indels in 23andme data

So back in August I wrote about how I was looking into discovering whether I had anything genetic underlying my Autism and other conditions. In part of my post I talked about finding some variants in my 23andme data that are apparently pathogenic. Since then I have done a fair bit of research and have …

Seeking a Genetic Cause for My Autism

Since I got diagnosed with Autism 6 years ago there has been a significant increase in people getting genetic diagnoses that underly their Autism. As I have additional features often seen in genetic developmental disorders including hearing loss, an underdeveloped lacrimal system and hypertonia, I have begun to suspect that I might have such a …

Mild Is Hard

Mild is having people think because you heard them in one situation, you should be able to hear them in all situations. Mild is having to endure people laughing over your one word responses to social questions. Mild is not having every trait of Autism and having people use that as a reason to say …