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Doctor insights on: Genetic Testing Hemochromatosis

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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

Dr. Scott McLean
1,256 doctors shared insights

Genetic Testing (Definition)

Prenatal testing for genetic problems may be done before or after conception. Testing for spina bifida or Down syndrome is done after a pregnancy is established. Besides the couples listed above, counseling and diagnosis are also recommended for mothers over the age of 35, and those who have received abnormal screening test results, such as alpha-fetoprotein (AFP). For more information about the alpha-fetoprotein test, and when and why you might have it, see alpha-fetoprotein. For those who may be at risk, genetic counseling and prenatal diagnosis are used to help ...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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Is brca genetic testing a simple blood test?

Is brca genetic testing a simple blood test?

Yes: BRCA testing can be performed from either blood or saliva. A significant amount of DNA needs to be present for adequate testing so most companies require more than a finger stick blood draw. Usually a single blood tube containing 3 ccs of blood is adequate ...Read more

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Do ovum donors undergo genetic testing or pedigree evaluation?

Do ovum donors undergo genetic testing or pedigree evaluation?

Yes: Check with your rei specialist for details, but all ovum donors would be asked to report a detailed family history and would be tested for common recessive disorders, such as cystic fibroisis. Many programs would also request more extensive testing including a panel of 100 such recessive diseases, including such problems as spinal muscular atrophy, the askenazi jewish panel, fragile x, & more. ...Read more

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Is genetic testing for adrenoleukodystrophy possible?

Yes: Because adrenoleukodystrophy is a genetic condition, there are tests for it. You can find some good information about the disorder, testing and centers that are experts in the disorder at the national organization for rare diseases (nord). Their web site is www.Rarediseases.Org. Disorders are listed alphabetically, along with hospitals/providers that have special expertise in the disorder. ...Read more

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Is genetic testing necessary for CMT diagnosis?

Is genetic testing necessary for CMT diagnosis?

No: Diagnosis can be made by other means, though genetic testing will provide confirmation and pin point the defect. See this site for more info. http://www.ncbi.nlm.nih.gov/pubmedhealth/pmh0001741/. ...Read more

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Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Perhaps: It is a genetic disorder with the parents acting as carriers. Atcp.Org might be a good starting place to investigate genetic counseling prior to conception and try to evaluate your risk. ...Read more

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Can Parkinson's disease have genetic testing?

Clinical diagnosis: Parkinson disease may have genetic basis, but the diagnosis is usually made based on signs and symptoms. See this site for genetic basis of the disease. http://www.ncbi.nlm.nih.gov/pubmed/15503301. ...Read more

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Is addisons disease a genetic hereditary problem?

Is addisons disease a genetic hereditary problem?

Addisions is genetic: In 2012 the answer is usually yes. Tuberculosis caused dr. Addison to describe the condition. Now it is any failure of the adrenal glands. Today it does run in families where autoimmune diseases occur. (thyroid, diabetes, adrenal, celiac, etc). ...Read more

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Can someone with genetic hemochromatosis donate blood?

Can someone with genetic hemochromatosis donate blood?

Yes: If you're not symptomatic, there's no reason even to tell them, and in fact it's a great way to keep your body iron burden down. In fact, it's how i manage my one-dose hemochromatosis while helping others. ...Read more

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Is autosomal dominant polycystic kidney disease testing available ?

Is autosomal dominant polycystic kidney disease testing available ?

Yes, but......: Testing for this disease is safe and simple but beware of what you ask for. Knowing that you have polycystic kidney disease will make it difficult or expensive to obtain life and health insurance. Best to get these issues under control first as early diagnosis (before renal insufficiency) offers no benefit. Knowing that you have the gene prior to having children is useful for family planning. ...Read more

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Please exlain alpha-fetoprotein testing for genetic disorders?

Please exlain alpha-fetoprotein testing for genetic disorders?

Alpha fetal protein: AFP is a fetal specific globulin, synthesized by the fetal yolk sac, gastrointestinal tract, and liver. The function of AFP is unknown. AFP blood levels can be measured during the second trimester to screen for open spina bifida and anencephaly, but can also uncover fetal abnormalities such as abdominal wall defects. AFP is also used in screening tests for downs syndrome and edwards syndrome. ...Read more

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Is genetic testing available for Parkinson's disease?

Yes,but: There are several gene mutations that have been detected in pd.Many are very limited in familial clusters & only 10% of pd is thought to be determined by such mutations.The lrrk2 gene is the most common anomaly in late onset pd & detection in an affected patient can be used to as a marker for close family screening. See the nih report: www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc3280083. ...Read more

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Can embryo screening identify hereditary heart disease?

Can embryo screening identify hereditary heart disease?

Sometimes: Hereditary heart diseases caused by a single gene may screened for an identified using ivf with pgd. Those without a known single gene cannot. ...Read more

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Is a noninvasive prenatal paternity bloodtest, done with blood from alleged fathers, cfdna and 317.000 genetic markers a reliable test?

Is a noninvasive prenatal paternity bloodtest, done with blood from alleged fathers, cfdna and 317.000 genetic markers a reliable test?

Yes: Make sure the identity of the alleged fathers and pregnant mother are confirmed. Make sure no tampering with the blood. Science can reveal the dna. ...Read more

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Who should undergo genetic counseling for hereditary non-polyposis colorectal cancer (hnpcc)?

Who should undergo genetic counseling for hereditary non-polyposis colorectal cancer (hnpcc)?

Family history: There are a number of different inherited defects that cause hnpcc. A person with strong family history of colon cancer, occurring at a young age should seek counseling. ...Read more

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What mutation causes haemochromatosis?

What mutation causes haemochromatosis?

More than one: There are at least 4 different type of genes involved in hemochromatosis mutations. See this site for more info. http://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis ...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


Dr. (Liz)Phuong Tran
329 doctors shared insights

Hemochromatosis (Definition)

A condition of excess iron that can lead to liver cirrhosis, diabetes, and heart failure. Usually a hereditary condition of excessive absorption of iron, it can also be caused ...Read more