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Huntington Disease - Mutation Analysis CAG Repeats

Huntington Disease - Mutation Analysis CAG Repeats

Huntington Disease (HD) is a neurodegenerative disorder that affects muscle coordination, leading to cognitive decline and psychiatric problems. It is a genetic disorder, inherited in an autosomal dominant pattern. This means that an affected person has a 50% chance of passing the gene mutation that causes the disease to each of their offspring.

The HD gene, located on chromosome 4, codes for a protein called Huntingtin. Within this gene is a segment of DNA known as a CAG trinucleotide repeat. This repeat, which consists of a series of the DNA building blocks (cytosine, adenine, and guanine), appears multiple times in a row. In people without HD, the CAG segment is repeated 10 to 35 times. However, in people with HD, the CAG segment is repeated 36 to 120 times. The number of CAG repeats is typically related to the age at onset of signs and symptoms. The more repeats, the earlier the onset.


  • Test NameHuntington Disease - Mutation Analysis CAG Repeats
  • Sample TypeBlood
  • Preparations RequiredThis test requires a blood sample. No specific preparation is required in advance of this test.
  • Report Time9 days

Why is the CAG repeat test important?

The number of CAG repeats in the HD gene impacts when symptoms of Huntington's disease will start. By knowing the number of repeats, doctors can predict when symptoms might appear and guide management decisions.

Can this test detect Huntington disease in individuals without symptoms?

Yes, this test can detect the genetic mutation causing Huntington disease even before symptoms start. However, it's important to have genetic counseling before and after testing to understand the implications fully.

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Frequently Asked Questions

A positive result means you carry the mutation that causes Huntington's disease. The onset and severity of symptoms can vary, but most people with the mutation will develop symptoms eventually.

Yes, the test can be used for prenatal testing and pre-implantation genetic diagnosis. If you are considering these options, it's essential to discuss with a genetic counselor or other healthcare professional experienced in genetic disorders.

The test requires a blood sample, which is then analyzed in a lab. The lab uses a technique called polymerase chain reaction (PCR) to amplify the region of the HD gene that contains the CAG repeats. Then, the size of the amplified DNA segment is measured to determine the number of repeats.

Technical factors, including the quality of the blood sample and laboratory procedures, may affect test results. Biological factors, such as mosaicism (differences in the CAG repeat number in different cells of the same person), could also influence results.

The number of CAG repeats typically correlates with the age of onset of symptoms. If you have a high number of repeats but no symptoms, it could be that symptoms have not yet developed. Regular follow- ups with a neurologist are recommended to monitor for symptom onset.

While no specific lifestyle or diet has been proven to slow the progression of Huntington's disease, maintaining a healthy lifestyle can improve overall well-being and might help manage some symptoms. This can include a balanced diet, regular exercise, and mental stimulation.

If you have abnormal test results, it is important to consult with a neurologist and a genetic counselor. They can provide guidance on managing and understanding the implications of these results.

There is currently no cure or way to prevent the onset of Huntington's disease in individuals who have the HD gene mutation. However, ongoing research is aimed at finding treatments that can delay or lessen symptoms.

If you have a positive test result, each of your biological children has a 50% chance of inheriting the HD gene mutation. It's important to discuss this with your family and a genetic counselor who can guide you through understanding the risks and potential implications.

A positive test result can lead to emotional and psychological stress. It's important to seek support from mental health professionals and local or online support groups who can help you cope with the emotional aspects of this diagnosis.

Knowing your CAG repeat number can help with medical decision-making and planning for the future. It can also allow for early symptom management and inclusion in clinical trials for new treatments.

The CAG repeat test is highly accurate for diagnosing Huntington's disease. However, it cannot predict the exact age of onset or the specific symptoms that will develop.

Research into treatments for Huntington's disease is ongoing, with several experimental therapies in clinical trials. Some of these aim to lower the levels of the harmful huntingtin protein in the brain.

A Huntington's disease diagnosis can be daunting, but the CAG repeat test provides crucial information about the likelihood of symptom onset. By understanding this test, you can better prepare for the future and make informed decisions about your health and wellbeing.

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