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Doctor insights on: Polycystic Kidney Disease Genetic Testing

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Dr. Scott McLean
1,243 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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How would I go about getting a genetic test for polycystic kidney disease before ttc?

How would I go about getting a genetic test for polycystic kidney disease before ttc?

Genetic Counselor: 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. ...Read more

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

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: 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. ...Read more

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What to do if I have 4-month old girl patient with polycystic kidney disease.w/o genetic studies, how do I know w/c type?

What to do if I have 4-month old girl patient with polycystic kidney disease.w/o genetic studies, how do I know w/c type?

Polycystic kidneys: You have a wonderful children's hospital in Philadelphia. Call their urology department for help with your infant daughter.Their genetics department will also bevery helpful ...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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Autosomal dominant polycystic kidney disease testing involves what kinds of tests?

Autosomal dominant polycystic kidney disease testing involves what kinds of tests?

See below: The current diagnostic criteria to detect cyst in the kidney is by ultrasound, however this is not a 100% accurate way as very small cysts can be missed. Ct scan can detect cysts which are smaller like 1 mm.There are no diagnostic criteria dveloped for ct scan yet. In case a young kidney donor wants to donote, but make sure he/she doesnot have the disease, there are genetic tests available. ...Read more

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Can you tell me much about polycystic kidney disease?

Can you tell me much about polycystic kidney disease?

Genetics etc: Most common is autosomal dominant polycystic kidney disease, adpkd, 50 % of offspring will develop it. Much less common is infantile or autosomal recessive polycystic renal disease, arpkd, inherited by 25% of kids of same parents who are both "carriers". Neither curable, infantile requires treatment from birth with early nephrectomy + dialysis ; transplantation. Adpkd ok early, slowly progressive. ...Read more

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How do you typically diagnose polycystic kidney disease?

How do you typically diagnose polycystic kidney disease?

Ultrasound: You can take an imaging study called a renal ultrasound. The ultrasound can determine the number of cysts on your kidneys and can lead to a diagnose of polycystic kidney disease. ...Read more

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What are the symptoms associated with polycystic kidney disease?

What are the symptoms associated with polycystic kidney disease?

Pain: Typically pain in flank area both sides, blood in urine , hypertension, and over time progressive kidney failure. ...Read more

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What are some of the clinical findings of polycystic kidney disease?

What are some of the clinical findings of polycystic kidney disease?

Huge kidneys: Dominant or adult PKD often presents with huge kidneys with cysts. High blood pressure, pain in the kidneys, and strokes may also be issues. The kidneys lose function over time on blood tests. Recessive or infantile PKD presents earlier in life. Kidneys are huge but cysts often are not seen. High blood pressure and kidney problems can occur. Liver scarring can also lead to bleeding from the gut. ...Read more

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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


Kidney (Definition)

The kidneys are paired organs that lie on either side of the vertebral column. Part of their critical functions include the excretion of urine and removal of nitrogenous wastes products from the blood. They regulate acid-base, electrolyte, fluid balance and blood pressure. Through hormonal signals, the kidneys control the ...Read more