genetic testing

Hi everyone, I’m a a male in my 30s with ME/CFS (diagnosed in 2012 using ICC criteria), now mostly housebound with severe post-exertional malaise (PEM), disabling muscle pain and cramps (especially in the thighs), and profound fatigue. After years of inconclusive testing, I recently did whole...

Sequence Variant Nomenclature This website clearly explains what codes like NG_012232.1(NM_004006.2):c.93+1G>T and p.Trp24Cys mean. Ensembl This website has good tools, such as a variant effect predictor. It's more for those with a (bio)informatics background. ClinVar A public archive of the...

Abstract Inborn errors of metabolism have traditionally been viewed as the quintessential single gene disorders; defects in one gene leads to loss of activity of one enzyme causing a metabolic imbalance and clinical disease. However, reality has never been quite that simple, and the classic...

We have used mice with inborn errors of mitochondrial fatty acid beta-oxidation to test the concept of synergistic heterozygosity. We postulated that clinical disease can result from heterozygous mutations in more than one gene in single or related metabolic pathways. Mice with combinations of...

Inborn errors of metabolism show considerable variation in the severity of symptoms. This is often ascribed to the differential effects of specific muta- tions on gene/enzyme function; however, such geno- type/phenotype correlations are usually imprecise. In addition, in some patients with...

Genetic testing can be performed with a device called SNP chip. Not all genetic testing is done with these. Direct-to-consumer genetic testing companies like 23andME often use SNP chips. A problem with SNP chips is that they are unreliable when it comes to rare gene variants. There is the risk...

I thought a thread for any special offers would be useful. Currently Nebula have free worldwide delivery, and WGS x30 for $299 (normal price $1000), which is a bit over £200 since the exchange rate is good at the moment. There is a x100 offer on too, plus an upgrade from x30 to x100 for...

Apparently most of the population have variants or absence of the CYP2C19 gene. But how do I figure out from the raw genetic data (rs17878459 etc numbers, and alleles) which variants I do or don't have? I'm working from SNPedia but usually it's just a case of checking the rs number, and...

I have a 23 and Me kit in my room for years. Hesitant to use it cause of privacy issues. Was wondering are there tests that a doctor's office can run that would be similar to 23 and Me? Then I wouldn't have to be concerned about my results, how they are going to use it now or in the future...

Wall Street Journal: The Unfulfilled Promise of DNA Testing The article weaves the story of a young sick girl thru it by discussing how genetic testing has resulted in her diagnosis changing over and over and over as the science changes constantly. And how this is happening to other patients...

https://www.bbc.co.uk/programmes/w3cswqtv BBC podcast, 23 minutes.