facts about genetic diseases

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Dr. Gurmukh Singh answered:

tell me about the genetic disorder methemoglobinemia (blue person disease)?

Abnormal hemoglobin

Genetic
Methhemoglobin is an abnormal form of hemoglobin, usually due to oxidative damage. Some inherited forms of hemoglobins are more susceptible to such damage and could be said to be due to gene disorder.
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How would i go about getting a genetic test for polycystic kidney disease before TTC?

Genetic Counselor

Dna
See a Genetic Counselor to arrange testing. University hospitals have Clinical or Medical Genetics Divisions. Otherwise, your OB doctor, a fertility clinic, or a Maternal Fetal Medicine or High-risk OB clinic can refer you. If the testing is positive, see a Reproductive Endocrinologist before you get pregnant to discuss Preimplantation Genetic Diagnosis (PGD) to prevent your child from having PCKD
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Dr. Scott McLean answered:

How would i go about getting a genetic test for polycystic kidney disease (pkd) to see if I might pass it on?

See your doctor

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The best place to start is with your primary care physician. A very thorough family history and an ultrasound will help determine if you have PKD. You will need to see a nephrologist and maybe a geneticist to determine what kind of PKD you have. The risk of passing PKD to your children depends on getting the correct diagnosis. Genetic testing would usually be ordered by one of those specialists.
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Dr. Janet Meller answered:

Question about omphalocele? Is it genetic?

Possibly

Klinefelters_syndrome
Sometimes omphalocele is associated with a chromosomal abnormality. It can also be associated with a gene mutation. But it can also occur for no apparent reason.
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Dr. Alvin H. Fried answered:

Does anyone know about prediabetes? Genetic?

Probably

Genetic
Since prediabetes is the forerunner of diabetes, which is a genetically related disease, the prediabetes is most likely genetic. However, the exact genetics have not been worked out. If you have a family with a lot of diabetics, ask your doctor to a blood test.
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Is TTN genetic, is there a gene I should know about?

No!

Neonatal
If you mean transient tachypnea of the newborn it is not genetic.
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Can you tell me about the most common genetic disorder?

Thalassemias

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Alpha and beta thalassemias are estimated to be the most common genetic conditions. WHO has a nice article and list of common genetic conditions in the world, here link for your convenience: http://www.who.int/genomics/public/geneticdiseases/en/index2.html
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Dr. Paul Pancner answered:

Is there any research about adhd being a genetic disorder?

Studies

Add
There has been considerable amount of research done addressing the hereditary aspect of adhd. The research suggests there is a strong hereditary component. In fact, adhd surpassed bipolar d/o as the #1 hereditary mental disorder Research has not isolated a particular gene however.
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I have a genetics question about von hippel-lindau disease?

Von Hippel-Lindau

Genetic
Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.
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Where can I find information about about genetic counseling?

Talk to your ob!

Gene
Your regular obstetrician should be able to refer you to a certified genetic counselor. Try this online resource: http://www.marchofdimes.com/pregnancy/trying_geneticcounseling.html
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