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Doctor insights on: Lchad Mutation Analysis

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Etiology of DNA mutations?

Etiology of DNA mutations?

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

Mutation (Definition)

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


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Is factor 7 gene mutation (heterozygote) thrombophila?

Is factor 7 gene mutation (heterozygote) thrombophila?

No: Factor 7 mutation is very rare and causes increased risk of bleeding (not being able to clot). Factor 5 deficiency is the most common form of thrombophilia (increased risk of abnormal clotting). ...Read more

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Is hemophilia a gene mutation?

Yes: Both hemophilia a and b are due to mutations in genes on the x chromosome. ...Read more

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

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What is a hereditary hemochromatosis DNA mutation?

What is a hereditary hemochromatosis DNA mutation?

Gene Mutation: This is a mutation in one of the genes that help to process iron absorption. The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease. ...Read more

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Who needs apc genetic testing?

Who needs apc genetic testing?

History of polyps: General indications for APC gene testing include patients who themselves have had 10 or more adenomas or have had a desmoid tumor, or patients who have a family member with an APC gene mutation found on genetic testing. ...Read more

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What chromosome is mutated in sickle cell disease?

What chromosome is mutated in sickle cell disease?

11: The beta globin gene is mutated in sickle cell anemia; it is located on chromosome 11. ...Read more

Dr. Jay Park Dr. Park
2 doctors agreed:
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Is williams syndrome a gene or chromosomal mutation ?

Dr. Jay Park Dr. Park
2 doctors agreed:
Is williams syndrome a gene or chromosomal mutation ?

Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more

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Is homocystinuria a gene disorder?

Is homocystinuria a gene disorder?

Yes: Homocystinuria is an inherited genetic disorder that impairs the metabolism of the Amino Acid methionine. It is a recessive disorder, which means that you have to have two faulty copies of the gene (inherited singularly from each parent) to be cinically affected. ...Read more

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Is hereditary angioedema type III a genetic mutation?

The big unknown: This is a big unknown question, some people have a mutation that can cause type iii and others have an unkown kind that responds to treatments of hae. ...Read more

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Gene expression profiling predicts clinical outcome of breast cancer?

Gene expression profiling predicts clinical outcome of breast cancer?

We're Getting There: In the past, we used anatomic staging alone (tumor size, lymph node involvement) to guide rx. Gene profiling allows us a completely separate measure of prognosis, and, more importantly, can predict who may or may not benefit from different chemotherapy agents. In the future, we will hopefully be able to tailor our rx to the specific cancer being treated: the elusive personalized medicine. ...Read more

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How do a gene mutation and a chromosomal mutation differ?

Mutations: A chromosome will contain many genes, so a chromosome mutation will effect many genes. A gene mutation will have an effect only on that gene. ...Read more

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With bipolar ii, adhd, & c ptsd, what additional tests are beneficial? Ie: hormone, neurotransmitter , DNA mutation (mthfr, a1at ...) methylation etc.

Yes: I would definitely check mthfr and comt. Both these are involved in methylation. One is involved in neurotransmitter synthesis, and the other in breakdown. Therefore polymorphisms can impact mood, etc, and if so, vitamins and supplements can help the methylation cycle. I check mthfr in most of my patients. ...Read more

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Is a neural tube defect a chromosomal mutation or a gene mutation?

Both or neither.: While neural tube disorders can be a genetic mutation (gene is a functional unit of heredity occupying a specific spot--locus--on a chromosome), they occur most commonly in the setting of Folic Acid deficiency during pregnancy--hence prenatal vitamins with folic acid. Ntds occur in 1/1000 births, and range from spina bifida occulta to anencephaly. ...Read more

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Can a pedigree trace autosomal recessive or autosomal dominant diseases?

Family tree: If you have enough information, a well filled out family tree can sometimes reveal patterns of inheritance. This includes autosomal recessive /dominant or x linked forms of inheritance. ...Read more

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What is the definition or description of: thrombophilia DNA mutation analysis?

What is the definition or description of: thrombophilia DNA mutation analysis?

Test for clotting: Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis). ...Read more

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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 more

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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?

Your doctor: Will be able to analyse the genetic result in combination with your symptoms and physical examination to determine your diagnosis ...Read more

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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

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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)?

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

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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 thank

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
thank

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

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How do mutations cause disease or damage?

Mutations: Great google question and wikipedia. proteins aren't made right is basic answer. ...Read more

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Is there a commercial test to look at the kras mutation?

Is there a commercial test to look at the kras mutation?

Yes, but...: Yes, but more context is needed, because blood tests for kras are applicable to noonan syndrome and cardiofaciocutaneous syndrome, and tumor tests for kras are relevant to treatment of metastatic colorectal cancer. ...Read more

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What type of mutation causes barth syndrome?

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

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Which forms of leukemia are caused by a mutation?

Which forms of leukemia are caused by a mutation?

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

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What is the definition or description of: jak2 mutation?

What is the definition or description of: jak2 mutation?

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

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What is the egfr mutation test? What does its score imply?

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

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Etiology of DNA mutations?

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

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What does a mutation of cancer mean?

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 more

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Could gamma radiation cause mutation?

Could gamma radiation cause mutation?

Yes: In llow doses where the dna is not destroyed may cause mutations in dna and effect the nature of the organism that has received the radiation or induce a malignant transformation. ...Read more

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What type of mutation is canavan disease?

What type of mutation is canavan disease?

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

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Is Huntington's disease caused by a mutation?

Yes: HD is a truely dominantly inherited condition caused by an unstable expanded CAG trinucleotide repeat in exon 1 of the HD gene on chromosome 4. ...Read more

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What kind of mutation occurs in scid disease?

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

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What type of mutation causes alagille syndrome?

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

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Please suggest what type of mutation occurs in pku?

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