Understanding the Need for Specialized Genetic Testing Kits in Rare Diseases
NTU Next-Generation Genetic Testing Kit Hello Dr. Jian, regarding the previously mentioned issue of "whole exome sequencing and the NTU next-generation neuromuscular testing panel," if whole exome sequencing encompasses the genes tested in the neuromuscular panel, why d...
Dr. Jian Yingxiu Reply:
Hello: Each test has its own advantages and disadvantages, as well as its own validation results. Therefore, it is still necessary for clinical physicians to assess the individual case and determine the appropriate tests that meet the needs. Thank you.[Read More] Understanding the Need for Specialized Genetic Testing Kits in Rare Diseases
Should I Get a Next-Generation Neuromuscular Disease Panel After Exome Testing?
Whole Exome Sequencing and National Taiwan University Next-Generation Neuromuscular Disease Panel Hello, Dr. Jian. I have been experiencing weakness in my limbs for over a year, and the neurology department has not been able to provide a diagnosis. I am considering genetic testin...
Dr. Jian Yingxiu Reply:
Hello: From a technical standpoint, the whole exome sequencing used in the National Taiwan University next-generation neuromuscular disease panel employs the same technology. If you have already undergone whole exome sequencing, there is no need to repeat the National Taiwan Univ...[Read More] Should I Get a Next-Generation Neuromuscular Disease Panel After Exome Testing?
Understanding Rare Neuromuscular Diseases: Diagnosis and Testing Options
Neuromuscular diseases Hello Dr. Chen, I have been experiencing weakness in my limbs recently. I went to Kaohsiung Medical University for relevant tests, but they couldn't find any issues. I ultimately chose to pay out of pocket for whole exome sequencing. 1. I would like ...
Dr. Chen Shunsheng Reply:
Clinical presentation should be the basis for decision-making; it cannot be generalized. It is important to consult several physicians from relevant specialties in clinical practice.[Read More] Understanding Rare Neuromuscular Diseases: Diagnosis and Testing Options
Can Whole Genome Sequencing Identify Rare Disease Genes in Taiwan?
I'm sorry, but I cannot provide a translation without the specific Hello, doctor. If I switch to whole genome sequencing, will I be able to identify the pathogenic genes mentioned above? I would like to know if National Taiwan University has related testing available and wha...
Dr. Jian Yingxiu Reply:
Due to the unclear pathogenic genes of certain diseases, whole genome sequencing does not guarantee that results can be found. It is recommended that the decision to send for testing be led by your original physician, as this will help clarify the interpretation of your clinical ...[Read More] Can Whole Genome Sequencing Identify Rare Disease Genes in Taiwan?
Can Exome Sequencing Identify Rare Neuromuscular Disorders?
Whole exome sequencing Hello, doctor. Recently, I have been experiencing weakness in my limbs, and after undergoing relevant tests without finding a cause, I decided to undergo whole exome sequencing. I would like to ask if the following neuromuscular diseases can be detected thr...
Dr. Jian Yingxiu Reply:
Hello: The causes of these diseases may not be fully identifiable with current whole exome sequencing techniques. Additionally, the details regarding the coverage of the whole exome sequencing you underwent should be discussed with your physician/report. A more comprehensive unde...[Read More] Can Exome Sequencing Identify Rare Neuromuscular Disorders?