4 ms·

Genetic testing for specific diagnosable and treatable conditions are extremely common in the medical world. For example, the BRCA gene test is commonly given

Genetic testing for specific diagnosable and treatable conditions are extremely common in the medical world. For example, the BRCA gene test is commonly given to people with elevated familial risk of breast cancer. They do not go searching through entire genomes for any possible variant, though. > I ended up finding my own genetic issue (23andme) myself and they STILL do not care. They would rather let me rot on disability and homelessness. Your other comments said you diagnosed yourself with PNP deficiency. This is generally a fatal condition in infants and adolescence unless treated early with hematopoietic stem cell transplantation. I wouldn't rely on 23andMe's SNP analysis as a genetic diagnosis of anything, especially disorders which are fatal in adolescence. 23andMe has been known to mis-mark certain SNPs at various times in the past, and it's not guaranteed 100% accurate. Is it possible that you were a carrier, but not homogenous for the variant? The condition is autosomal recessive, meaning you would need to inherit flawed copies from both parents. Having a single bad copy could show up in 23andMe but would not indicate that you have the condition. To put it in perspective, the number of cases of PNP known to the literature in the entire world is less than 100.

FollowingTheDao 4y ago
>Your other comments said you diagnosed yourself with PNP deficiency. This is generally a fatal condition in infants and adolescence unless treated early with hematopoietic stem cell transplantation. Just stop please. Why do you think I do not know what I am talking about? How long have you researched this gene and have you talked to people who are actively involved in researching this? Only certain p[polymorphisms are fatal for infants. There are plenty of us living with partial PNP deficiency. https://pubmed.ncbi.nlm.nih.gov/32695102/ https://pubmed.ncbi.nlm.nih.gov/32695102/ Conclusions: Patients with partial PNP deficiency can present in the third decade of life with mild-moderate immune abnormalities and typical development. Near-normal immunity might be achieved with relatively low PNP activity. > Is it possible that you were a carrier, but homogenous for the variant? There are many genetic alterations which do not manifest as disease unless you inherit a broken copy from both parents. I am homozygous for four variants known to effect T Cells. There is not only one polymorphism that can reduce enzyme activity, rs1049562 rs1049564 - https://www.researchgate.net/figure/Purine-nucleoside-phosphorylase-PNP-rs1049564-variant-enzyme-activity-and-mRNA_fig2_319408659 https://www.researchgate.net/figure/Purine-nucleoside-phosph... rs1713421 rs1760931
- PragmaticPulp 4y ago
  If you truly suspect this, it's worth exploring something other than 23andMe. 23andMe is useful, but not known for accuracy. Even their datasets have known to include mislabeled SNPs in past years. > Only certain p[polymorphisms are fatal for infants. There are plenty of us living with partial PNP deficiency. > https://pubmed.ncbi.nlm.nih.gov/32695102/ https://pubmed.ncbi.nlm.nih.gov/32695102/ The finding in this paper is that partial PNP deficiency produced normal development in 2 out of 3 siblings and near-normal immune activity in the 3rd, despite having only 8-11% of the normal PNP activity. The takeaway is that partial PNP deficiency might, in some cases, present with only mild-moderate immune abnormalities or normal functioning.
  - FollowingTheDao 4y ago
    I had my genetics one by 23 and me twice once with the v4 chip, and again with v5 chip. I highly doubt that it would come up the same in both of those runs if there was any type of error. I really don’t understand why it went down plays 23 and me so much. Near normal immune function in the third person is not normal immune function. I am one of the people that are affected. Please don’t tell me my history and please don’t assume you know everything about what I’ve suffered through. I’m so tired of this attitude. When there’s no evidence for something people always seem to want to make it into nothing. When, in fact, if they actually studied it, they would find the evidence. But they don’t and people like me just suffer with immune deficiency and mental illness and nothing gets done.
    - yread 4y ago
      Seriously talk to someone who does clinical genomics not 23andme. Our institute does various tests and the closest one to 23andme is ngs with avg read depth of 2000 and we still get a bunch of errors in reads and we have huge lists of known artifacts that we only know about because we actually do the clinical correlation
      - FollowingTheDao 4y ago

FollowingTheDao 4y ago

>Your other comments said you diagnosed yourself with PNP deficiency. This is generally a fatal condition in infants and adolescence unless treated early with hematopoietic stem cell transplantation. Just stop please. Why do you think I do not know what I am talking about? How long have you researched this gene and have you talked to people who are actively involved in researching this? Only certain p[polymorphisms are fatal for infants. There are plenty of us living with partial PNP deficiency. https://pubmed.ncbi.nlm.nih.gov/32695102/ https://pubmed.ncbi.nlm.nih.gov/32695102/ Conclusions: Patients with partial PNP deficiency can present in the third decade of life with mild-moderate immune abnormalities and typical development. Near-normal immunity might be achieved with relatively low PNP activity. > Is it possible that you were a carrier, but homogenous for the variant? There are many genetic alterations which do not manifest as disease unless you inherit a broken copy from both parents. I am homozygous for four variants known to effect T Cells. There is not only one polymorphism that can reduce enzyme activity, rs1049562 rs1049564 - https://www.researchgate.net/figure/Purine-nucleoside-phosphorylase-PNP-rs1049564-variant-enzyme-activity-and-mRNA_fig2_319408659 https://www.researchgate.net/figure/Purine-nucleoside-phosph... rs1713421 rs1760931

PragmaticPulp 4y ago
If you truly suspect this, it's worth exploring something other than 23andMe. 23andMe is useful, but not known for accuracy. Even their datasets have known to include mislabeled SNPs in past years. > Only certain p[polymorphisms are fatal for infants. There are plenty of us living with partial PNP deficiency. > https://pubmed.ncbi.nlm.nih.gov/32695102/ https://pubmed.ncbi.nlm.nih.gov/32695102/ The finding in this paper is that partial PNP deficiency produced normal development in 2 out of 3 siblings and near-normal immune activity in the 3rd, despite having only 8-11% of the normal PNP activity. The takeaway is that partial PNP deficiency might, in some cases, present with only mild-moderate immune abnormalities or normal functioning.
- FollowingTheDao 4y ago
  I had my genetics one by 23 and me twice once with the v4 chip, and again with v5 chip. I highly doubt that it would come up the same in both of those runs if there was any type of error. I really don’t understand why it went down plays 23 and me so much. Near normal immune function in the third person is not normal immune function. I am one of the people that are affected. Please don’t tell me my history and please don’t assume you know everything about what I’ve suffered through. I’m so tired of this attitude. When there’s no evidence for something people always seem to want to make it into nothing. When, in fact, if they actually studied it, they would find the evidence. But they don’t and people like me just suffer with immune deficiency and mental illness and nothing gets done.
  - yread 4y ago
    Seriously talk to someone who does clinical genomics not 23andme. Our institute does various tests and the closest one to 23andme is ngs with avg read depth of 2000 and we still get a bunch of errors in reads and we have huge lists of known artifacts that we only know about because we actually do the clinical correlation
    - FollowingTheDao 4y ago