Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome-Reference-Cited by-同舟云学术

Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome

Published:2021-07-01 Issue:4 Volume:41 Page:394-400
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Gu Hyunjung¹^ORCID,Kim Man Jin²^ORCID,Yang Dahae³^ORCID,Song Ji Yun²,Cho Sung Im²^ORCID,Park Sung Sup²⁴^ORCID,Seong Moon-Woo²⁴^ORCID

Affiliation:

1. Department of Laboratory Medicine, Graduate School, Kyung Hee University, Seoul, Korea

2. Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea

3. Department of Laboratory Medicine, Kosin University Gospel Hospital, Busan, Korea

4. Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

http://pdf.medrang.co.kr/ALM/2021/041/ALM041-04-07.pdf

Reference18 articles.

1. Fragile X syndrome

2. Advanced technologies for the molecular diagnosis of fragile X syndrome

3. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

4. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

5. Macpherson J and Sharif A. Practice guidelines for molecular diagnosis of fragile X syndrome. Association for Clinical Genetic Science (ACGS). https://www.acgs.uk.com/media/10768/frx_bpg_final_nov_2014.pdf (Updated on Nov 2014).

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