Doctor insights on:
Lchad Mutation Analysis
In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more
Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?
See below: Lynch sydrome is caused by a germline mutation in a gene leading to msi. Combined testing for msi, and using ihc to look for genetic abnormalities leading to msi are the best tests to determine if you have lynch syndrome. Further genetic testing could be done in people who test positive for msi or ihc. Please see: http://www.Mayoclinic.Com/health/lynch-syndrome/ds00669/dsection=tests-and-diagnosis. ...Read moreSee 1 more doctor answer
If a mutation is new & SIFT analysis predicts deleterious, but you only fit some of the criteria for the diagnosis, do you give the diagnose?
Thyroseq v2 was mutations NOT detected but analysis limited due to low amount of thyroid epithelial cells.So this test was useless?
Totally: B"sd absolutely right - genetic studies should only be done on an appropriate tissue specimen. To my knowlege, specimens are screened for adequacy before such testing. If the biopsy was indicated in the first place then it must be repeated - usually after an appropriate interval to allow the "needled" tissue to heal. ...Read more
Can I be diagnosed with Gilbert's syndrome only based on my blood bilirubin levels although my 1& 2 UGT1A1 gene analysis came normal (no mutations)?
PossibleOtherVariant: Although your 1&2 UGT1A1 Gene analysis is normal.This variant account for 50%of alleles in many populations.However several allallelic polymorphic variants of this region occur.The most common of which results from adding another dinucleotide repeat TA to the promotor region resulting in A(TA7)AA .So there are other variants in people from south east asia,East Asians and pacific islanders ...Read more
Hello,i am twice i have abortion and i made Androgen analysis and this is the result( Tag Androgen in exon 1 of androgen receptor gens typ of mutation 23 high risk of abortion) Doctor what do you think about this analysis and what is the cure for it
Not Standard Care: Doctors in the US generally do not send genetic analyses as detailed as yours b/c we do not fully know what to do with results like that which may not bear significance on future pregnancies. We usually examine chromosomes but not genes. Is that genetic analysis from YOU or from the remnants of the pregnancy? For more information, see a genetic counselor. ...Read more
X-linked mutation: Barth syndrome, also known as 3-methylglutaconic aciduria type II (MGCA2), is caused by mutation in the tafazzin gene (TAZ) on chromosome Xq28. Each boy born to a carrier mother has a 50% chance of having it. Each daughter of a carrier mother has a 50% chance of being a carrier. All daughters of men with Barth Syndrome are carriers. https://www.barthsyndrome.org/home has information & resources. ...Read more
Most are due to muta: Mutations are common in all cancers. In Leukemia the very first mutation(Single mutation, causing cancer was discovered in Chronic Myelocytic Leukemia(CML). In most other Leukemias, there are multiple mutations present once we have learned how to search for them by Genomic profiling. ...Read more
See below: The jak2 mutation is a genetic change found in about 9 out of 10 people with polycythemia vera (pv). Jak2 is part of a signaling system (like a thermostat) that helps tell the bone marrow when to start and stop making blood cells. Most people with pv have acquired a mutation(change) in their jak2. Because of this change, the bone marrow makes too many blood cells. ...Read more
No such thing: There's an unproven test for one's MTHFR (a folic acid metabolism enzyme) genotype. A majority of people who pay to have it done will be told they have a health problem and the lab will then offer them certain special nutritional supplements. Most pathologists do not believe in this; I'm open-minded but not yet persuaded. ...Read more
Replication error: Most changes in dna come from errors in the duplication of the dna. But changes can occur in the structure from radiation and some chemicals especially those used in chemotherapy. Most mutations are harmless, some are tracked down by your normal reparative mechanism but a few can cause trouble including cancer. ...Read more
Cancer mutation: Most cancer cells have this inherent trait or property that they can have dna or chromosomal changes leading to a mutant strain and leading to cancer resistance. That's why cancer is do difficult to eradicate. If we can overcome these mutations by using targeted drugs, we will come close to finding a cure for cancer. ...Read moreSee 1 more doctor answer
Mutation of gene: More than 55 mutations in the aspa gene are known to cause canavan disease. Mutations in the aspa gene reduce or eliminate the activity of aspartoacylase, which interfers with maintaining the brain's white matter, which consists of nerve fibers covered by myelin. Nerve fibers without this protective covering malfunction and die, damaging the brain and causing canavan disease. ...Read more
Depends: There are too many different types of scid - severe combined immunodeficiency for there to be just one mutation. Scid is commonly referred to as "bubble boy" disease in the lay press. The most common type is linked to the x chromosome and causes a defect in t cells and natural killer cells. ...Read more
Autosomal dominant: Alagille syndrome has an autsomal dominant genetic inheritance pattern. It is rare, however, and affects the heart and liver primarily. In 90% of cases, mutations on chromosome 20 that affect the JAG1 gene causes this syndrome. A few people have mutations in a gene called NOTCH2. Defects in these genes are thought to lead to abnormal embryonic development in the affected organs. ...Read more
PKU is inherited by : autosomal recessive transmission. Both parents carry a mutation of a gene on the long arm of Chromosome 12, causing deficiency of the enzyme phenylalanine hydroxylase in a child who inherits both mutant genes. The child is unable to use an amino acid called Phenylanine. Excess Phenylalanine from dietary protein is toxic to the brain.See http://www.npkua.org/Education/AboutPKU.aspx ...Read more