When I did my first genome sequence, Dante's standard 30x product, I found an interesting variant in the ARID1A gene. The variant I found is novel and predicted to be pathogenic by most of the algorithms. Pathogenic mutations in ARIAD1A cause Coffin Siris Syndrome, rare developmental disorder. This condition is associated with Autism and has … Continue reading A Possible Mosaic ARID1A Mutation
An Inherited KBTBD13 Variant
This post follows on from two previous posts; Unusually Tight Muscles and I might have myopathy. I suggest you read those first if you haven't already. In the second of those posts I discussed a variant I found in the KBTBD13 gene that could be a potential cause of my muscle symptoms. Since then I have … Continue reading An Inherited KBTBD13 Variant
Discovering De Novo Variants
It's been ages since my last post. I got sucked into the world of Harry Potter fan fiction and since I was on furlough I didn't have much to draw my attention away from it. It definitely became a perseverative activity that wasn't terribly functional. However I am now back at work and this has … Continue reading Discovering De Novo Variants
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 … Continue reading Sano Genetics Exome Sequencing
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 … Continue reading I might have myopathy
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 … Continue reading Unusually Tight Muscles
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 … Continue reading The Circle DNA Autism Report
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 … Continue reading Getting the Circle DNA test
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 … Continue reading Lumminary Whole Exome Sequencing
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 … Continue reading Dante Labs Whole Genome Sequencing
