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Doctor insights on: How To Test For Mthfr Gene Mutation

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Heterozygous for a1298c mutation on mthfr gene. can you explain this to me?

Heterozygous for a1298c mutation on mthfr gene. can you explain this to me?

Yes: The 1298 mutation is not as bad as the 677 mutation. You may have some decreased enzyme function, and would also benefit from methylfolate in small doses as needed. More information here: Http://drfairchild.blogspot.com/2013/10/mthfr.html ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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How do a gene mutation and a chromosomal mutation differ?

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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Is anyone using "counsyl" test for alleles for tetramethyohydrofolate reductase alleles (gives up to 50% "heterozygotes") to guide rx?

Is anyone using "counsyl" test for alleles for tetramethyohydrofolate reductase alleles (gives up to 50% "heterozygotes") to guide rx?

Don't know, but: Check with your OB and a geneticist (probably at one of the two medical centers in your area) for further information. Sorry, but that's out of my area of expertise. ...Read more

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Could anybody get the mthfr-a1298c gene mutation?

Depends: The MTHFR 1298 mutation is not uncommon, but for any given individual to have the possibility of having it, one or both of their parents must have it. ...Read more

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What will happen to patient with positive jak2 mutation assay? Thank you

What will happen to patient with positive jak2 mutation assay? 

Thank you

Needs more workup: Hi many different types of myeloproliferative diseases can have a positive jak-2 mutation. If possible please can you tell me more. Thanks. ...Read more

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How can I find out if I carry the chromosome mutation for agammaglobulinemia?

Genetic counsellor: There are several possible tests that could be done. Because testing is expensive and highly specialized it needs to be focused on the right target. Depending upon your history and relations with or without disease it may make sense to use one test and not another or not test at all. If this is a real concern i would see your doc for referral to a genetic counsellor. ...Read more

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Haemophillia carrier testing, what to expect?

Haemophillia carrier testing, what to expect?

Pending. : It will either be positive (you are a carrier) or negative. You left out your family history, which is most important. ...Read more

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Can you tell me for bio I need to research elephantiasis mutations and is it a gene or chrom. mutation?

Can you tell me for bio I need to research elephantiasis mutations and is it a gene or chrom. mutation?

Bio question: Go to wikipedia and you text books and your notes and you classmates as no clear what you are asking. And even your teacher may be able to help you. Too broad of a question for us here. ...Read more

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Can being genetically tested for the scn9a gene show a link to primary erythromelalgia?

Can being genetically tested for the scn9a gene show a link to primary erythromelalgia?

Perhaps: This is a complicated area as multiple mutations of this gene have been described and associated with primary erythermalgia erythromelalgia (pe). Erythromelalgia is found in pts with myeloproliferative diseases and elevated platelet counts, though the symptoms are similar. If there is a familial incidence of pe, genetic testing could be done. Not clear about using it as a screening test. ...Read more

Dr. Liawaty Ho Dr. Ho
2 doctors agreed:
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How can I get a genetic test done to determine if I am a carrier of a leukemia genetic mutation?

Dr. Liawaty Ho Dr. Ho
2 doctors agreed:
How can I get a genetic test done to determine if I am a carrier of a leukemia genetic mutation?

No reliable test: There is no test like that. There are companies offering comprehensive genomic mapping etc- however, i would not recommend it as it is not primetime yet. There are a lot of questions in regard to that - ie. Not clear how reliable it is, how would you interprete the result , what is the consequency etc. It is for sure will increase your anxiety level. Discuss with your md in detail. ...Read more

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Can you tell me, are all brca gene mutations hereditary?

Can you tell me, are all brca gene mutations hereditary?

Good question. : The answer is no, a small number of patients with early onset breast cancer who carry a bad brca 1 or 2 mutation develop it "de novo", meaning that it started with them (after all, someone has to be the first to have it). Depending at which stage in development it happens, it may affect them to a different degree and may or may not be passed to their children. Some other cancer syndromes.. ...Read more

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Found out I am positive for mutation in brca 1 gene advice needed please?

Found out I am positive for mutation in brca 1 gene advice needed please?

Life planning: This is something to discuss closely w/ your MD. Ovarian CA more likely w/ BRCA1 than BRCA2. Women w/ either BRCA have >50% chance of developing breast cancer. If you have it, get screened with CA-125 blood test, ultrasound, mammogram/MRI, usually starting at age 30. Surgery after childbearing includes removal of the uterus, ovaries, and fallopian tubes, as well as mastectomy. Good luck. ...Read more

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How does one test for sickle beta thalassemia?

How does one test for sickle beta thalassemia?

Blood test: Sickle Beta cell Thalassemia is an inherited disorder and new born screening is available and should be done . This disorder is due to decreased synthesis or absence of beta globulin chains . It may manifest in infancy and early childhood and may cause serious medical problems which need to be treated ...Read more

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What is the difference in gene sequencing tests vs gene deletion/duplication tests? Should one type of genetic test be done before the other?

What is the difference in gene sequencing tests vs gene deletion/duplication tests?  Should one type of genetic test be done before the other?

Depends: Sequencing is like reading war and peace letter by letter, and deletion/duplication testing is like seeing if a chapter is completely missing or present as an extra copy. Which first? Depends on the condition. For duchenne muscular dystrophy, look for deletions first. For brca, sequence first. Your clinical geneticist can discuss the strategy with you. ...Read more

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How can I test for cetp gene?

How can I test for cetp gene?

See your doctor: Have your doctor refer you to a genetic counsellor. ...Read more

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Does heterozygous for MTHFR gene mutation affect pregnancy?, and what about taking synthetic folic acid supplement?

Controversial...: Some studies have shown an association between the MTHFR gene mutation and recurrent miscarriages but this is controversial. Aside from this possibility, it doesn't cause problems with pregnancy. If you have this mutation, its a good idea to take folic acid, vitamin B-12 and Vitamen B-6. Aspirin is also sometimes recommended for women for who have had recurrent miscarriages. Best wishes! ...Read more

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About the brca-1 gene (breast cancer gene)...If a male is a carrier for the gene what will happen to his daughters?

About the brca-1 gene (breast cancer gene)...If a male is a carrier for the gene what will happen to his daughters?

50:50 inheritance: Any child of a brca carrier has a 50:50 chance of inheriting that mutation. If they have inherited the mutation, they have a 50-80% chance of developing breast cancer, and an increeased risk of several other cancers. For more information, check this link: http://www.Cancer.Gov/cancertopics/factsheet/risk/brca. ...Read more

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What can I do to get a genetic test done to determine if I am a carrier of the leukemia genetic mutation?

What test?: What "leukemia genetic mutation" are you referring to? I am unaware of any screening test, where screeening is defined as testing in an asymptomatic patient. Need more info... ...Read more

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How often do you refer a patient for a multiple cancer genome mutation panel test, such as 46-gene ion torrent cancer ampliseq check up?

How often do you refer a patient for a multiple cancer genome mutation panel test, such as 46-gene ion torrent cancer ampliseq check up?

Never : Outside of a clinical trial, never. We have no data to support using any of these results to make treatment decisions. It is always tempting to want to know more, and to extrapolate these answers into treatment decisions, but we are not there yet. ...Read more

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How do you geneticists test for mitochondrial disorder?

How do you geneticists test for mitochondrial disorder?

Maternal: One of the most distinctive features of mitochondrial dna is that of maternal inheritance, it is transmitted only by mother dna. ...Read more

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My MTHFR gene mutation test says 'not detected' but the note below it says 'this assay detects the mutation C677T in MTHFR' . Does it mean I have it ?

My MTHFR gene mutation test says 'not detected' but the note below it says 'this assay detects the mutation C677T in MTHFR' . Does it mean I have it ?

MTHFR mutations: MTHFR is the gene which produces methylenetetrahydrofolate reductase. Over 50 known mutations in this gene cause reduced function of the enzyme. The most common mutation causing homocystinuria is the C677T mutation, which among other problems increases the risk of stroke. I can't tell how many mutations your particular test could detect, but you do not have the C677T mutation. ...Read more

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Does having the mthfr gene mutation put me at risk for life threatning illness more than the average person? Is there anything i can do 2 help

Depends: Depends on which mutation you have, and if you have one or two mutations. Having two copies of the 677 mutation is a bigger deal than having one copy of the 1298. The 677 and 1298 mutations are each treated differently. But yes, there is help for them. ...Read more

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Do all mthfr gene mutations benefit from folate over folic acid? Or certain stands? Is there different treatment for heterozygous v homozygous?

MTHFR : MTHFR has several forms. And treatments can vary. Look here for additional information. http://mthfr.net/mthfr-c677t-mutation-basic-protocol/2012/02/24/ ...Read more

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Heterozygous for a1298c mutation on mthfr gene. can you explain this to me?

Yes: The 1298 mutation is not as bad as the 677 mutation. You may have some decreased enzyme function, and would also benefit from methylfolate in small doses as needed. More information here: Http://drfairchild.blogspot.com/2013/10/mthfr.html ...Read more

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Hi, I'm not really sure how this service works, but I'm going to send my question and see what happens. I have been having fertility treatment and was recently diagnosed with the homozygous C665T MTHFR gene mutation. There is a lot of conflicting inform

Hi, I'm not really sure how this service works, but I'm going to send my question and see what happens.  I have been having fertility treatment and was recently diagnosed with the homozygous C665T MTHFR gene mutation.  There is a lot of conflicting inform

Sorry I: cannot offer more help than this: The "story" is still "OUT" and this gene abnormality has now been blamed for just about EVERYTHING from early heart disease to frequent miscarriages! I would be VERY CAUTIOUS about accepting ANY ADVICE particularly the INTERNET about this "condition" If this is a MAJOR issue consult with a Board Certified GENETICIST! My Opinion only...hope it helps..Good Luck Z ...Read more

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I am pregnant and have a mthfr gene mutation and i recently read that folic acid is not good for me or the baby and I should take folate instead?

I am pregnant and have a mthfr gene mutation and i recently read that folic acid is not good for me or the baby and I should take folate instead?

MTHFR: If you've been tested for mthfr mutations and do have one, then your body may not do well with Folic Acid at all. You would benefit more from methylfolate since it bypasses the metabolic step that your system has trouble with. You need a functional medicine or integrative medicine doc who really knows mutations in this enzyme ; can advise you plus collaborate with your ob-gyn doc too. ...Read more

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I have a mutation of the mthfr gene and have had a thermal ablation.I have had 4 pregnancies and lost them.Uterine lining is 3.74 can I carry a baby?

I have a mutation of the mthfr gene and have had a thermal ablation.I have had 4 pregnancies and lost them.Uterine lining is 3.74 can I carry a baby?

MTHFR Gene mutation: Here's some important information on the mthfr gene mutation... http://doccarnahan.blogspot.com/2013/10/whats-big-deal-about-methylation-update.html. ...Read more

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Does heterozygous for MTHFR gene mutation affect pregnancy?, and what about taking synthetic folic acid supplement?

Controversial...: Some studies have shown an association between the MTHFR gene mutation and recurrent miscarriages but this is controversial. Aside from this possibility, it doesn't cause problems with pregnancy. If you have this mutation, its a good idea to take folic acid, vitamin B-12 and Vitamen B-6. Aspirin is also sometimes recommended for women for who have had recurrent miscarriages. Best wishes! ...Read more

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Could anybody get the mthfr-a1298c gene mutation?

Depends: The MTHFR 1298 mutation is not uncommon, but for any given individual to have the possibility of having it, one or both of their parents must have it. ...Read more

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Does the MTHFR genetic mutation cause OCD? if you were treat the mutation, would the ocd improve? any articles or references about ocd and MTHFR?

Does the MTHFR genetic mutation cause OCD? if you were treat the mutation, would the ocd improve? any articles or references about ocd and MTHFR?

OCD and other: psychological issues have been found to be linked to the MTHFR mutation. the Spectracell lab in Texas has a test for this and some info on their website. The very best to you. Lots of room for hope. ...Read more

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What does the medical community make of the mthfr genetic mutation? I had a doctor tell me that they no longer look at it or feel it is a problem

What does the medical community make of the mthfr genetic mutation? I had a doctor tell me that they no longer look at it  or feel it  is a problem

MTHFR Gene mutation: If you'd like to do more reading on the health effects of mthfr gene mutation, here's a great article ... http://doccarnahan.blogspot.com/2013/10/whats-big-deal-about-methylation-update.html. ...Read more

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I am hetero for the mthfr genetic mutation c677t. Everything i've read says I should be gluten/folic acid/dairy free. Advice regarding this mutation?

I can't agree: ~1 person in 4 is like you. The pathology community is divided over MTHFR testing. I'm undecided. A majority of people who take the test will be told they have an 'abnormal' result and are therefore in need of special supplements which they may then be offered by the folks who have done the test. Talk with your own physician and if necessary an authentic genetic counsellor. ...Read more

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If I am compound heterozygous for the mthfr gene, what kind of treatment will i receive when trying to conceive? I've had one stillborn son.

If I am compound heterozygous for the mthfr gene, what kind of treatment will i receive when trying to conceive? I've had one stillborn son.

CONTROVERSY: Some rei drs recommend anticoagulation therapy anywhere from a baby Aspirin daily tpo Lovenox (enoxaparin) or Heparin injection until you deliver. Also, if you are mthfr deficient, taking l-methylfolate supplements (deplin) may be very helpful in decreasing depression and post-partum blues. ...Read more

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I have the MTHFR gene. Is it safe to take the Methyl CpG supplement? Which vitamins should I avoid? It has 2,000mcg of folate, in the M.CpG Is it safe

I have the MTHFR gene. Is it safe to take the Methyl CpG supplement? Which vitamins should I avoid? It has 2,000mcg of folate, in the M.CpG Is it safe

Go ahead: This gene testing is being promoted by a lab to liability-wary physicians. The majority of folks tested are told they have an abnormal gene and that they should take these folks' supplements. Most of us pathologists think it's subscientific at best, though there's some interesting stuff. Health doesn't come out of a pill bottle and I hope you're eating sensibly and exercising. Best wishes. ...Read more

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Please i need help...i want to know the cost of brca gene mutation ? And does the test found in all the countaries

Variably expensive: These are very expensive tests and they are not necessary or indicated unless you have a close family history of breast cancer. Even then, having the mutation does not mean that you will definitely have cancer. Better to do annual mammograms and self exams. The tests are available in the US and many other countries but not everywhere and may cost US$2000-4000 ...Read more

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I have erythromelalgia. Ive had every test except gene mutation and all were normal. just curious if its likely that I have Poly vera I'm 18 yr male.

I have erythromelalgia. Ive had every test except gene mutation and all were normal. just curious if its likely that I have Poly vera I'm 18 yr male.

Unlikely: While PV can occur at any age, the median age on diagnosis is around 70 years. Nonetheless, you should be carefully followed by your physician. ...Read more

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What kind of gene mutation is canavan disease?

What kind of gene mutation is canavan disease?

Recessive defect: Canavan disease occurs when a baby inherits a mutated gene from both parents, that when normal codes for the production of an enzyme called aspartoacyclase.Having only one mutated gene allows production of the enzyme so carriers (the parents) have no problems. ...Read more

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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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Can you tell me how i could find the interview i saw about brca gene mutation?

Information's handy: There are plenty of evidence-based sites dealing with the BRCA genes and their mutations. Don't chase down a particular interview. The science is well-established. Be discerning and get with your physician if you feel you need to be tested. ...Read more

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Read about a LPR5 gene mutation family in science magazine,does new drug LP33401 increase bone width too or juz BMD in the mice experiment?

Read about a LPR5 gene mutation family in science magazine,does new drug LP33401 increase bone width too or juz BMD in the mice experiment?

Interesting question: When I searched for lp40331, I found it to be the part no. for a John Deere T-shirt. The leprosy susceptibility genetic loci are fascinating, however. Armauer Hanson discovered Mycobacterium leprae in Bergen, Norway in 1873. Genetic susceptibility to leprosy was long suspected by epidemiologists, and now confirmed, explaining why many family or tribe members are resistant. See OMIM.org %609888 ...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


Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their ...Read more