Commercial laboratory tests versus genetic counseling – AgriNews


I have a daughter, almost 31 years old, who is worried about Charcot-Marie-Tooth syndrome. Her maternal grandmother was diagnosed with this condition. She is interested in having a genetic test for the condition to see if it is susceptible. She was referred to a commercial, direct-to-consumer laboratory for testing. How likely is it that a laboratory test is accurate for this particular condition? Should she do all of this through either a certain type of genetic counselor or her private doctor, an internist, rather than an independent trial?

Charcot-Marie-Tooth disease is the namesake of a family of hereditary motor-sensory neuropathies, diseases that affect the nerves that transmit the impulses necessary for movement and sensation. The first symptoms most commonly are weakness and atrophy in the feet, followed by similar problems in the hands and sensory changes.

The diagnosis can be made through EMG tests – electromyography, a needle scan of the electrical activity of the muscles – but genetic testing is another way of making the diagnosis. If your grandmother has a known mutation, she will likely use genetic testing to confirm her own status.

Commercial genetic testing is certainly available and likely to be accurate. Still, I would recommend a visit to a genetic counselor. This may require a referral from your GP.

The correct test setup and its interpretation will depend on the exact diagnosis of your grandmother’s condition, as there are many genetic variations of Charcot-Marie-Tooth.

Your daughter is likely to have questions after the test results, and the benefit of having an experienced doctor to answer them would be invaluable.

I am an 81 year old man. About two years ago I began to notice that my testicles were shrinking and they are now about the size of a marble. I asked my GP and urologist about it and the answer is nothing can be done about it. I’ve read that boxer shorts are recommended to keep the testicles cooler and healthier. I wonder if the long periods of sitting at my desk and reading could be related to my shrinking testicles. Or is it related to erectile dysfunction caused by decreased blood flow? I have ED. My last testosterone result was around 500. Is there nothing to do, not even exercise?

The medical term for what happens to you is “testicular atrophy,” and it has several possible causes. Age alone is one: by the age of 81, many men have noticed shrinkage in testicle size, but yours is beyond the norm. You’re right that cooler temperatures are healthier for the testicles, but again, I’m a little surprised at the severity of your description.

Other common causes include a history of trauma or infection. However, any underlying cause can also affect the testes’ ability to produce testosterone.

Your blood testosterone level is surprisingly normal for your age; 400 to 500 is the average for a man in his 80s. Low testosterone levels are a common cause of erectile dysfunction. Poor blood flow is only one cause of ED.

Unfortunately, after two years, it is very unlikely that any treatments will affect the testicles now.

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