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Is There A Blood Test To Determine Pompe's Disease?
Question: Hi! Is there a blood test to determan Pompe's disease or is it one of those process of elimination diseases?
Brief Answer:
yes, there is
Detailed Answer:
Hi,
Yes, there is a blood test to determine Pompe's disease. It is called the biochemical assay of the enzyme activity in the blood. The usual enzymes assayed are maltase and creatine kinase levels.
A muscle biopsy can also help in confirming the disease.
It is not a disease of elimination, it has a confirmatory diagnosis.
Hope your query is answered.
Regards,
yes, there is
Detailed Answer:
Hi,
Yes, there is a blood test to determine Pompe's disease. It is called the biochemical assay of the enzyme activity in the blood. The usual enzymes assayed are maltase and creatine kinase levels.
A muscle biopsy can also help in confirming the disease.
It is not a disease of elimination, it has a confirmatory diagnosis.
Hope your query is answered.
Regards,
Above answer was peer-reviewed by :
Dr. Prasad
Thank you for this information. In the blood work, will the DNA be tested and results show whether or not the chromosome that regulates the enzyme specific to Glycogen is present or absent? Regards, XXXX
Brief Answer:
the cell as a whole will be tested
Detailed Answer:
Hello XXXXXXX
In the blood work, the DNA is not tested. The whole cell is tested for the enzyme both in the cytoplasm and in mitochondria, if any.
The DNA test is a different entity. This test would include PCR technique. In these, the chromosome that regulates the enzyme specific to Gylcogen is tested, and looked for its presence or absence.
Hope it is clear to you.
the cell as a whole will be tested
Detailed Answer:
Hello XXXXXXX
In the blood work, the DNA is not tested. The whole cell is tested for the enzyme both in the cytoplasm and in mitochondria, if any.
The DNA test is a different entity. This test would include PCR technique. In these, the chromosome that regulates the enzyme specific to Gylcogen is tested, and looked for its presence or absence.
Hope it is clear to you.
Above answer was peer-reviewed by :
Dr. Bhagyalaxmi Nalaparaju
Sorry, I just need to be clear. By "this test" are you referring to the "whole cell" test or a DNA test. Thanks. XXXX
Brief Answer:
This test is DNA test
Detailed Answer:
Hello,
Sorry, if there was a confusion.
By "this test", I mean the DNA test.
Regards,
This test is DNA test
Detailed Answer:
Hello,
Sorry, if there was a confusion.
By "this test", I mean the DNA test.
Regards,
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Bhagyalaxmi Nalaparaju
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