Vol 7, No 4 (2014)

Table of Contents

Review

The Application of Whole-Exome Sequencing in Diagnosing Pediatric Rare Disease in Hong Kong
Christopher CY Mak, MBChB CY Mak, Dingge Ying, Brian HY Chung
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RNA Sequencing and its Applications in Cancer Diagnosis and Targeted Therapy
Mimi Wan, Jianhui Wang
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Navigating Web-Based Resources for Genetic Testing of Chromosome Abnormalities, CNVs and Gene Mutations
Deqiong Ma, Bixia Xiang
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Microarray Reporting: Balancing Laboratory Findings, Clinical Utility and Patient Anxiety
Li E. Cheng, Arun Wiita, Jingwei Yu Yu
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The AApplication of Whole-Exome Sequencing in Diagnosing Pediatric Rare Disease in Hong Kong
Christopher CY Mak, Brian HY Chung
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Case Report

A 420 Kb Deletion within the Minimum Critical Region of the 15q24 Microdeletion Syndrome in a Female Infant
Deling Li, Yao-Shan Fan
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Prenatal Diagnosis of Xq26.1-q26.3 Duplication in Two Fetuses of a Woman with Gonadal Mosaicism
Fang Xu, Stacy Cook
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Communication

A Pilot Study of Next-Generation Sequencing on Cell-Free DNA from Blood Plasma and Bone Marrow Fluid for Detecting Leukemic Clonal Abnormalities
Qinghua Zhou, Zongzhi Liu
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Improving Quality of Genetic Testing through Participation in International Proficiency Testing Programs
Lin Zou, Liming Bao, Jingkun Miao
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Tertiary Education System for Genetic Technologists, Counselors and Specialists
Peining Li, Katherine Wilcox, Peter C Hu
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On the Globalization and Standardization of Medical Genetics and Genomics as Clinical and Laboratory Specialties
Hui Zhang, Peining Li
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Commentary

Toward Best Practice in Using Molecular Diagnosis to Guide Medical Management, Are We There Yet?
Xuezhong Liu, Anne Chun-Hui Tsai
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