Comprehensive case report and literature review on perioperative management of multiple pheochromocytoma in a pediatric patient by Shenghua Yu, Tianxiao Zou, Sisi Wei, Yani Yu, Guili Ding

“…This intervention led to a successful recovery. Subsequent genetic testing identified a mutation in the VHL gene. …”
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Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study by Maria Fuller, Jasmina Markulić

“…Additionally, the identification of CF in this population supports the recommendation for CF genetic testing in reproductive healthcare.…”
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The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis by Kate H. Cole, Patrick R. Sosnay, Lonny B. Yarmus, Jonathan B. Zuckerman

“…We describe the case of a CF patient who was initially diagnosed at 16 years of age after presenting with mild respiratory compromise and pancreatic sufficiency. When genetic testing was first performed using a CF mutation panel, only a single F508del CFTR allele was identified. …”
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Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report by Shahab Noorian, Hossein Moravej, Zhila Afshar, Afagh Hassanzadeh Rad, Setila Dalili

“…The discussion emphasizes the importance of early diagnosis, genetic testing, and personalized treatment in managing GSDs.  …”
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Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene by Haibin Chen, Haibin Chen, Yudi Zhang, Xueyao Yang, Xueyao Yang, Yongzhen Li

“…The missense mutation was determined to be both pathogenic and novel.ConclusionEarly genetic testing should be prioritized, and regular monitoring of kidney development and hearing status is essential. …”
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Chronic Benign Tubular Albuminuria From Compound Heterozygous Variants in : A Case Report by Adam Pietrobon, Mark D. Elliott

“…Outcomes: Kidney biopsy was not pursued for this patient as diagnostic clarification was achieved by non-invasive genetic testing alone. Novel findings: This case highlights several important lessons. …”
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Arnold-Chiari Malformation Type II and CYP1B1 Congenital Glaucoma: A Possible Association by Shaikha Aldossari, Amani Al Bakri, Yumna Kamal

“…Neurological exam showed paraparesis and moving upper extremities and has axial hypotonia. Genetic testing showed CYP1B1 gene mutation. Conclusion. …”
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Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children by Le Xie, Yue Qiu, Yuan Jin, Kai Xu, Xue Bai, Xiao-Zhou Liu, Xiao-Hui Wang, Sen Chen, Yu Sun

“…Genetic testing is the gold standard for exploring the etiology of congenital hearing loss. …”
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Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors by Alejandro Terrones-Lozano, Alan Hernández-Hernández, Edgar Nathal Vera, Gerardo Yoshiaki Guinto-Nishimura, Jorge Luis Balderrama-Bañares, Claudia Ramírez-Rentería, Judith de la Serna-Soto, Alfredo Adolfo Reza-Albarran, Lesly Portocarrero-Ortiz

“…However, different phenotypes can be observed depending on such germline mutations. Genetic testing is important in patients with PCPG since 31% will present a germline mutation. …”
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Identification of rare atypical BCR-ABL1 transcript: A case report by Jayesh Saha, Vipin Gopinath, Chandran K. Nair, Deepak Roshan

“…Here, a case is described of chronic myeloid leukemia presenting in the blast phase with a rare variant transcript, with a discussion on possible red flags in its detection and genetic testing and description of the patient's clinical characteristics. …”
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Torsades De Pointes Electrical Storm Induced by H1N1 in a Patient with KCNH2 Variant of Unknown Significance by Bashar Khiatah, Jonathan Dukes, Christina Desai, Amanda Frugoli

“…This case highlights the dilemma of evaluating novel genetic testing results in a clinical setting.…”
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Male Infertility: Causes and Current Developments in Diagnostic Work-Up by İnci Kahyaoğlu, Nafiye Yılmaz

“…The expeditious progress in the assisted reproductive techniques, highlight the importance of genetic testing in the evaluation of the male patient and in cases like azoospermia in which the prognosis may change the treatment protocol. …”
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A Diagnostic Approach to Hemochromatosis by Anthony S Tavill, Paul C Adams

“…The introduction of genetic testing and large-scale population screening studies have broadened our understanding of the clinical expression of disease and the utility of biochemical iron tests for the detection of disease and for the assessment of disease severity. …”
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Tell me y: anticipation of sex discrepancies in cell-free DNA testing due to maternal genetic abnormalities: a case report by Nuria Balaguer, Emilia Mateu-Brull, Jose Antonio Martínez-Conejero, Ana Cervero, Roser Navarro, Jorge Jiménez-Almazán, Miguel Milán

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A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia by Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

“…There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20–25% of such cases. …”
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Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration by Yuki Kawashima-Sonoyama, Keisuke Wada, Kei Yamamoto, Masanobu Fujimoto, Noriyuki Namba, Takeshi Taketani

“…Owing to the lack of distinctive features, there was a possibility of undiagnosed cases of this condition. Promoting genetic testing and clinical trials on GH administration for this condition is recommended.…”
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Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants by Nivedita U. Jerath

“…The study evaluated these five subjects using clinical, laboratory, electrophysiological, and genetic testing. The findings showed that clinical features demonstrated no pes cavus, no significant weakness in the hands or feet, normal reflexes in four out of the five subjects, and mild to normal electrodiagnostic findings. …”
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A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6 by Annejet Heida, Lisette J. M. E. van der Does, Ahmed A. Y. Ragab, Natasja M. S. de Groot

“…During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias manifested. Genetic testing identified a mutation of the KCNH2 gene and an unclassified variant, most likely pathogenic, of the KCNE2 gene. …”
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A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication by Takato Akiba, Shino Shimada, Katsumi Imai, Satoru Takahashi

“…This case highlights the importance of careful phenotyping and comprehensive genetic testing to detect rare structural variants in CDD patients.…”
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CANDLE syndrome – a narrative review by Aleksandra Snopkowska, Joanna Gołda, Julia Mężyk, Piotr Gacka, Marcin Dołęga

“…Despite therapeutic complexities, recent advancements in genetic testing and targeted therapies, notably Janus kinase inhibitors, offer promising avenues for improved patient outcomes. …”
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