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Patients with hereditary neuromuscular diseases often show non-specific, complex and atypical phenotypes, and it is difficult to make an accurate diagnosis based on clinical data alone
.
The identification of disease genes can carry out molecular diagnosis of patients and determine the disease risk of relatives.
diagnosis
The Neurogenetics Clinic of the National Institutes of Health (NIH) Clinical Center is a four-level care center that provides services for patients referred from national and international tertiary medical centers
.
Referrals include complex and difficult-to-diagnose single births or small family cases in which the standard care assessment does not confirm the diagnosis
This allows this article to identify mutations in patients from different races and ethnic backgrounds, these patients suffering from a series of neurogenetic diseases, including those rare, complex and atypical diseases
Demographics and genetic patterns of WES recipients
Categorize the mutations identified from the gene list screening
.
Variants with benign effects, possible benign effects, or uncertain significance are excluded from further analysis
39% (26/66) of the tested patients underwent genetic diagnosis, including patients with affected family members (88%, 14/16) and patients with complex phenotypes (63%, 5/8)
.
16 people (59%) who developed the disease before the age of 20 received genetic diagnosis, while the proportion of elderly people who developed the disease after the age of 40 was relatively low (27%)
child
Examples of clinical trial results that assist genetic diagnosis through exome sequencing analysis
Given that WES has been established in research and diagnostic laboratories, more methods and approaches are needed to interpret and confirm these data.
The interface between neurologists and patients needs to be better described so that more doctors can decide the next step.
Which are suitable, in the subsequent evaluation and verification of genetic testing data
.
The method in this paper uses a series of tools that are feasible in clinical practice, including predictive algorithms, bioinformatics, family separation studies, clinical diagnostic tests, and bioanalysis, thereby increasing the output of WES tests
The diagnosis rate of this article in patients under 20 years old is 59%, which highlights the novelty and practicality of this method
This approach enables redefining the practice of this article, identifying new disease-related variants, expanding the phenotypic spectrum of rare diseases, and providing better care for the patients and high-risk family members of this article
.
GrunseichC ,SarkarN ,LuJ GrunseichC Grunseich SarkarN Sarkar LuJ Lu , et al Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases Journal of Neurology, Neurosurgery & PsychiatryPublished Online First:08 June 2021.
Published Online First: doi:10.
1136/jnnp-2020-325437 doi: Leave a message here